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Clinical Dysmorphology

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https://www.readbyqxmd.com/read/28574861/occurrence-of-nasal-dermoid-cysts-in-a-family-with-a-single-maxillary-median-central-incisor-extending-the-clinical-spectrum
#1
Gabriella E Gazdagh, Meharpal Sangra, Sandra Butler, Margo L Whiteford
No abstract text is available yet for this article.
June 1, 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28562392/atypical-osteogenesis-imperfecta-caused-by-a-17q21-33-deletion-involving-col1a1
#2
Rosalyn Jewell, Ajoy Sarkar, Rebecca Jones, Ashley Wilkinson, Kate Martin, Paul Arundel, Meena Balasubramanian
No abstract text is available yet for this article.
May 30, 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28562391/pierpont-syndrome-report-of-a-new-patient
#3
Anne-Karin Kahlert, Sabine Weidensee, Luisa Mackenroth, Joseph Porrmann, Andreas Rump, Nataliya Di Donato, Evelin Schröck, Andreas Tzschach
Pierpont syndrome (OMIM #602342) is a rare disorder characterized by developmental delay, characteristic facial gestalt, hearing loss, and abnormal fat distribution in the distal limbs. A specific mutation in TBL1XR1 [c.1337A>G; p.(Tyr446Cys)] has been described recently in six unrelated patients with Pierpont syndrome. We report on a male child with developmental delay, distinctive facial dysmorphic features, dystrophy, and abnormal fat distribution in the feet, in whom we identified the identical TBL1XR1 mutation...
May 30, 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28562390/myhre-syndrome-with-novel-findings-bilateral-congenital-cortical-cataract-bilateral-papilledema-accessory-nipple-and-adenoid-hypertrophy
#4
Haktan B Erdem, Ibrahim Sahin, Abdulgani Tatar
No abstract text is available yet for this article.
May 30, 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28562389/clinical-course-over-five-decades-of-a-woman-carrying-16p13-3-microduplication
#5
Sarunpong Pibalyart, Objoon Trachoo
No abstract text is available yet for this article.
May 30, 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28557812/two-patients-with-19p13-2-deletion-malan-syndrome-involving-nfix-and-cacna1a-with-overgrowth-developmental-delay-and-epilepsy
#6
Yukiko Kuroda, Yoko Mizuno, Masakazu Mimaki, Akira Oka, Yusuke Sato, Seishi Ogawa, Kenji Kurosawa
No abstract text is available yet for this article.
May 26, 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28575890/familial-unilateral-carpal-bone-dysplasia-in-mother-and-daughter
#7
Tatsuo Fuchigami, Yukihiko Fujita, Mika Oyama, Yasuji Inamo, Shori Takahashi, Taihei Yamaguchi, Osamu Miyazaki, Gen Nishimura
No abstract text is available yet for this article.
July 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28505061/novel-ofd1-frameshift-mutation-in-a-chinese-boy-with-joubert-syndrome-a-case-report-and-literature-review
#8
Kaihui Zhang, Chen Meng, Jing Ma, Min Gao, Yuqiang Lv, Yi Liu, Zhongtao Gai
Joubert syndrome (JBTS) is a clinically and genetically heterogeneous group of ciliopathy with a key diagnostic feature of 'molar tooth sign' in brain MRI. So far, over 20 causative genes have been identified, but only one gene (OFD1) results in X-linked Joubert syndrome 10 (JBTS10). Six mutations in the OFD1 gene have been found to cause JBTS10. In this study, we identified a novel OFD1 mutation of c.2843_2844 delAA (p.Lys948ArgfsX) in a 3-month-old boy with a 'molar tooth sign' and clinical features of JBTS using targeted exome next-generation sequencing...
July 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28471776/achalasia-microcephaly-syndrome-a-further-case-report
#9
Mohamed Wafik, Usha Kini
No abstract text is available yet for this article.
July 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28452798/familial-craniofacial-abnormality-and-polymicrogyria-associated-with-a-microdeletion-affecting-the-nfia-gene
#10
Allan Bayat, Maria Kirchhoff, Camilla G Madsen, Laura Roos, Sven Kreiborg
No abstract text is available yet for this article.
July 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28383366/a-novel-case-of-autosomal-dominant-cutis-laxa-in-a-consanguineous-family-report-and-literature-review
#11
Mehmet B Duz, Emre Kirat, Paul J Coucke, Erkan Koparir, Alper Gezdirici, Anne De Paepe, Bert Callewaert, Mehmet Seven
Autosomal dominant cutis laxa (ADCL, OMIM #123700) is a rare connective tissue disorder characterized by loose, redundant skin folds that may be apparent form birth or appear later in life. Most severely affected areas are the neck, axillar regions, trunk, and groin. Typically, patients present with characteristic facial features including a premature aged appearance, long philtrum, a high forehead, large ears, and a beaked nose. Cardiovascular and pulmonary complications include bicuspid aortic valves, aortic root dilatation, and emphysema...
July 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28288024/3q27-3-microdeletion-syndrome-further-delineation-of-the-second-region-of-overlap-and-atopic-dermatitis-as-a-phenotypic-feature
#12
Rosalyn Jewell, Bennett Eng, Andrea Coates, Sarah Hewitt, Emma Hobson
No abstract text is available yet for this article.
July 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28277378/congenital-radial-head-dislocation-and-low-immunoglobulin-m-levels-in-6p25-3-deletion
#13
Órla Walsh, Colleen Heffernan, Stephanie Ryan, Karina Butler, Sally A Lynch
No abstract text is available yet for this article.
July 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28277377/de-novo-williams-beuren-and-inherited-marfan-syndromes-in-a-patient-with-developmental-delay-and-lens-dislocation
#14
Magdalena Budisteanu, Sorina M Papuc, Andreea C Tutulan-Cunita, Bogdan Budisteanu, Eva Weis, Aurora Arghir, Ulrich Zechner, Oliver Bartsch
No abstract text is available yet for this article.
July 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28230647/co-occurrence-of-rhabdomyosarcoma-and-mowat-wilson-syndrome-is-there-a-connection
#15
Mihael Rogac, Lidija Kitanovski, Karin Writzl
No abstract text is available yet for this article.
July 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28225384/star-syndrome-a-further-case-and-the-first-report-of-maternal-mosaicism
#16
Henrietta Lefroy, Jane A Hurst, Deborah J Shears
No abstract text is available yet for this article.
July 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28225383/severe-intellectual-disability-in-a-patient-with-burn-mckeown-syndrome
#17
Sonja Strang-Karlsson, Jill Urquhart, William G Newman, Sofia Douzgou
No abstract text is available yet for this article.
July 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28099180/kbg-syndrome-16q24-3-microdeletion-in-an-indian-patient
#18
Priyanka Srivastava, Poonam S Gambhir, Shubha R Phadke
No abstract text is available yet for this article.
July 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28027063/rubinstein-taybi-because-of-a-novel-ep300-mutation-with-novel-clinical-findings
#19
Mateusz Jagla, Tomasz B Tomasik, Ola Czyz, Mateusz Krol, Jeroen K J van Houdt, Przemko Kwinta, Beata A Nowakowska
No abstract text is available yet for this article.
July 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/27870659/a-novel-twist1-gene-mutation-in-a-patient-with-saethre-chotzen-syndrome
#20
Şule Altiner, Halil G Karabulut, Kanay Yararbaş, Ajlan Tükün, Corinne Collet, Pinar Kocaay, Merih Berberoğlu, Hatice Ilgin Ruhi
No abstract text is available yet for this article.
July 2017: Clinical Dysmorphology
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