journal
https://read.qxmd.com/read/37678403/a-familial-rearrangement-resulting-in-pure-duplication-of-distal-19p13-3
#21
JOURNAL ARTICLE
Nicole L Bain, Nicholas Koulouris, Rodney Scott, Melissa Buckman, Himanshu Goel
No abstract text is available yet for this article.
October 1, 2023: Clinical Dysmorphology
https://read.qxmd.com/read/37678402/unexpected-clinical-features-in-an-individual-with-schuurs-hoeijmakers-syndrome
#22
JOURNAL ARTICLE
Jéssica G A Espolaor, Eduardo Perrone, Marina F B Silva, Nara L M Sobreira, Elizabeth Wohler, Luiza A Virmond
No abstract text is available yet for this article.
October 1, 2023: Clinical Dysmorphology
https://read.qxmd.com/read/37791705/long-term-outcome-of-a-cohort-of-italian-patients-affected-with-alpha-mannosidosis
#23
JOURNAL ARTICLE
Anna Bertolini, Miriam Rigoldi, Annalia Cianflone, Raffaella Mariani, Alberto Piperno, Francesco Canonico, Graziella Cefalo, Francesca Carubbi, Alessandro Simonati, Maria Letizia Urban, Tommaso Beccari, Rossella Parini
Alpha-mannosidosis (MIM #248500) is an ultra-rare autosomal recessive lysosomal storage disease with multi-system involvement and a wide phenotypic spectrum. Information on long-term outcomes remains poor. We present the long-term outcomes (median, 19 years) of nine patients with alpha-mannosidosis, three females and six males, followed at a single center. The findings of the nine patients were collected from medical records and reported as mean ± SD or median, and range. The age of onset of the first symptoms ranged from 0-1 to 10 years...
September 26, 2023: Clinical Dysmorphology
https://read.qxmd.com/read/37646735/recurrence-of-arid1b-related-coffin-siris-syndrome-by-possible-gonadal-mosaicism
#24
JOURNAL ARTICLE
Eyyup Uctepe, Bekir Erguner, Fatma Mujgan Sonmez
No abstract text is available yet for this article.
August 10, 2023: Clinical Dysmorphology
https://read.qxmd.com/read/37646740/kohlschutter-tonz-syndrome-amelo-cerebro-hypohidrotic-syndrome-in-an-indian-family-with-a-novel-rogd1-mutation
#25
JOURNAL ARTICLE
Vykuntaraju K Gowda, Arun Y Bylappa, Varunvenkat M Srinivasan, Varsha Manohar, Himani Pandey
No abstract text is available yet for this article.
August 3, 2023: Clinical Dysmorphology
https://read.qxmd.com/read/37646730/novel-variant-in-the-kat6b-gene-associated-with-say-barber-biesecker-young-simpson
#26
JOURNAL ARTICLE
Stefania A Miller, Andrea P Solari, Guillermo Alberto, Ana C Benitez Medina, Brenda M García Ayré, Daniel Parisini, Aldana Claps, Melisa Taboas
No abstract text is available yet for this article.
August 3, 2023: Clinical Dysmorphology
https://read.qxmd.com/read/37646764/clinical-and-molecular-study-of-egyptian-patients-with-treacher-collins-syndrome
#27
JOURNAL ARTICLE
Nagham M Elbagoury, Amira Nabil, Asmaa F Abdel-Aleem, Ahmed Habib, Engy A Ashaat, Wessam E Sharaf-Eldin, Mona L Esswai
Treacher Collins syndrome (TCS) is a rare disorder of craniofacial development following different patterns of inheritance. To date, mutations in four genes (TCOF1, POLR1D, POLR1C, and POLR1B) have been found to cause the condition. The molecular defect remains unidentified in a significant proportion of patients. In the current study, whole exome sequencing including analysis of copy number variants was applied for genetic testing of eight Egyptian patients with typical TCS phenotype, representing the first molecular analysis of TCS patients in Egypt as well as in Arab countries...
July 4, 2023: Clinical Dysmorphology
https://read.qxmd.com/read/37646720/autosomal-recessive-otospondylo-mega-epiphyseal-dysplasia-comprehensive-clinical-review-of-a-pediatric-cohort
#28
JOURNAL ARTICLE
Hatice Mutlu, Nursel Elçioğlu, Esra Kiliç
Autosomal recessive otospondylo-mega-epiphyseal dysplasia (OSMEDB) is characterized by short stature with short limbs, dysmorphic facial features, and hearing loss, which is caused by biallelic, loss-of-function, variants in the COL11A2 gene. Geno-phenotypic data from the medical records of eight affected individuals from five unrelated families was abstracted, recorded in an Excel spreadsheet and analyzed using simple frequency analysis. Either short femora or short extremities with or without other ultrasonographic abnormalities were demonstrated in five patients antenatally...
July 4, 2023: Clinical Dysmorphology
https://read.qxmd.com/read/37646703/delineation-of-molecular-characteristics-of-congenital-myasthenic-syndromes-in-indian-families-and-review-of-literature
#29
JOURNAL ARTICLE
Shivani Mishra, Karthik Vijay Nair, Anju Shukla
Congenital myasthenic syndromes (CMS) are rare, heterogeneous, and often treatable genetic disorders depending on the underlying molecular defect. We performed a detailed clinical evaluation of seven patients from five unrelated families. Exome sequencing was performed on five index patients. Clinically significant variants were identified in four CMS disease-causing genes: COLQ (3/7), CHRNE (2/7), DOK7 (1/7), and RAPSN (1/7). We identified two novel variants, c.930_933delCATG in DOK7 and c.1016_1032 + 2dup in CHRNE...
June 19, 2023: Clinical Dysmorphology
https://read.qxmd.com/read/37195319/extending-the-phenotype-of-shashi-pena-syndrome-a-case-report-and-review-of-literature
#30
JOURNAL ARTICLE
Stephanie Ka Lun Ho, Shirley Sze Wing Cheng, Timothy Hua Tse Cheng, Lai-Ting Leung, Emily Kai Yee Lam, Myth Tsz Shun Mok, Ivan Fai Man Lo, Ho-Ming Luk
No abstract text is available yet for this article.
May 12, 2023: Clinical Dysmorphology
https://read.qxmd.com/read/37195340/further-evidence-of-biallelic-variants-in-kcnk18-as-a-cause-of-intellectual-disability-and-epilepsy-with-febrile-seizure-plus
#31
JOURNAL ARTICLE
Purvi Majethia, Rhea Harish, Dhanya Lakshmi Narayanan, Yatheesha B L, Suvasini Sharma, Anju Shukla
INTRODUCTION: KCNK18, a potassium channel subfamily K member 18 (MIM*613655), encodes for TWIK-related spinal cord K+ channel (TRESK) and is important for maintaining neuronal excitability. Monoallelic variants in KCNK18 are known to cause autosomal dominant migraine, with or without aura, susceptibility to, 13 (MIM#613656). Recently, biallelic missense variants in KCNK18 have been reported in three individuals from a non-consanguineous family with intellectual disability, developmental delay, autism spectrum disorder (ASD), and seizure...
May 8, 2023: Clinical Dysmorphology
https://read.qxmd.com/read/37195326/msmo1-deficiency-a-potentially-partially-treatable-ultrarare-neurodevelopmental-disorder-with-psoriasiform-dermatitis-alopecia-and-polydactyly
#32
JOURNAL ARTICLE
Tinatin Tkemaladze, Eirik Bratland, Kakha Bregvadze, Teona Shatirishvili, Nino Tatishvili, Elene Abzianidze, Gunnar Houge, Sofia Douzgou
MSMO1 deficiency (OMIM #616834) is an ultrarare autosomal recessive disorder of distal cholesterol metabolism with only five cases reported to date. The disorder is caused by missense variants in the MSMO1 gene encoding methylsterol monooxygenase 1, leading to the accumulation of methylsterols. Clinically, MSMO1 deficiency is characterized by growth and developmental delay, often in association with congenital cataracts, microcephaly, psoriasiform dermatitis and immune dysfunction. Treatment with oral and topical cholesterol supplements and statins was reported to improve the biochemical, immunological, and cutaneous findings, supporting a potential treatment following the precision diagnosis of MSMO1 deficiency...
May 8, 2023: Clinical Dysmorphology
https://read.qxmd.com/read/37195360/mirage-syndrome-in-a-10-year-old-girl-with-a-novel-lys1024glu-missense-variant-in-samd9
#33
JOURNAL ARTICLE
Tayfun Cinleti, Ali Gülen, Beria Sönmez, Semra Gürsoy, Özge Kangalli Boyacioğlu, Suna Asilsoy, Ayfer Ulgenalp, Özlem Giray Bozkaya, Ahmet Okay Çağlayan
No abstract text is available yet for this article.
May 1, 2023: Clinical Dysmorphology
https://read.qxmd.com/read/37195356/intragenic-foxc1-deletion-in-a-vietnamese-child-with-axenfeld-rieger-syndrome-case-report-and-review-of-literature
#34
JOURNAL ARTICLE
Ashley Shuen Ying Hong, Jiin Ying Lim, Mas Suhaila Isa, Wendy Kein-Meng Liew, Barrie Tan, Ching Lin Ho, Seo Wei Leo, Saumya Shekhar Jamuar
No abstract text is available yet for this article.
May 1, 2023: Clinical Dysmorphology
https://read.qxmd.com/read/37195341/degs1-related-leukodystrophy-a-clinical-report-and-review-of-literature
#35
JOURNAL ARTICLE
Melissa Song Ting Wong, Terrence Thomas, Jiin Ying Lim, Sylvia Kam, Jing Xian Teo, Jianhong Ching, Chew Yin Jasmine Goh, Saumya Shekhar Jamuar, Weng Khong Lim, Ai Ling Koh
BACKGROUND: Leukodystrophies are a heterogeneous group of disorders affecting the white matter of the central nervous system, with or without affecting the peripheral nervous system. Biallelic variants in DEGS1, coding for desaturase 1 (Des1) protein, were recently reported to be associated with hypomyelinating leukodystrophy (HLD), a subclass of leukodystrophies where the formation of the myelin sheath is affected. METHODS: Genomic sequencing was performed on our index patient with severe developmental delay, severe failure to thrive, dystonia, seizures, and hypomyelination on brain imaging...
May 1, 2023: Clinical Dysmorphology
https://read.qxmd.com/read/37195306/two-novel-csnk2a1-variants-associated-with-mild-okur-chung-neurodevelopmental-syndrome-phenotype
#36
JOURNAL ARTICLE
Mohamed Wafik, Heidi Kuoppamaa, Priyal Hirani, John Hignett, Suzanne Lillis, Karine Lascelles, Shweta Sardesai, Kumudini Gomez, Muriel Holder-Espinasse
No abstract text is available yet for this article.
May 1, 2023: Clinical Dysmorphology
https://read.qxmd.com/read/37195300/fetal-methotrexate-syndrome-following-an-unsuccessful-medication-abortion-a-rare-syndrome-posed-to-become-more-common
#37
JOURNAL ARTICLE
Peter W Joslyn, Amanda K Barkemeyer, Raegan W Gupta, Brian M Barkemeyer
No abstract text is available yet for this article.
May 1, 2023: Clinical Dysmorphology
https://read.qxmd.com/read/36876347/bloom-syndrome-in-children-unusual-case-of-early-onset-lung-damage
#38
JOURNAL ARTICLE
Houda Ajmi, Ines Trabelsi, Khouloud Rjiba, Sameh Mabrouk, Noura Zouari, Soumaya Mougou-Zerelli, Alain Verloes, Saoussan Abroug
No abstract text is available yet for this article.
April 1, 2023: Clinical Dysmorphology
https://read.qxmd.com/read/36876346/restrictive-dermopathy-due-to-zmpste24-deficiency
#39
JOURNAL ARTICLE
Athina Ververi, Evgeniya Babatseva, Georgios Mitsiakos, Georgia Karagiannopoulou, Marina Malakozi, Aikaterini Patsatsi, Elisavet Diamanti, Abhimanyu Garg
No abstract text is available yet for this article.
April 1, 2023: Clinical Dysmorphology
https://read.qxmd.com/read/36876345/novel-homozygous-rab3gap1-c-2606-1g-a-p-glu830valfster9-variant-and-chromosome-3q29-duplication-in-a-turkish-individual-with-warburg-micro-syndrome
#40
JOURNAL ARTICLE
Bilge Geckinli, Ayberk Turkyilmaz, Ceren Alavanda, Gunes Sager, Esra Arslan Ates, Mehmet Ali Soylemez, Ahmet Arman
Warburg micro syndrome (WARBM) is a rare, autosomal recessive, neurodevelopmental disorder characterized by microcephaly, cortical dysplasia, corpus callosum hypoplasia, congenital hypotonia leading to subsequent spastic quadriplegia, severe developmental delay and hypogenitalism. Ophthalmologic findings that may affect any ocular segment including characteristic, small, atonic pupils. WARBM is known to be caused by biallelic, pathogenic variants in at least five genes although additional genetic loci may exist...
April 1, 2023: Clinical Dysmorphology
journal
journal
31030
2
3
Fetch more papers »
Fetching more papers... Fetching...
Remove bar
Read by QxMD icon Read
×

Save your favorite articles in one place with a free QxMD account.

×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"

We want to hear from doctors like you!

Take a second to answer a survey question.