We have located links that may give you full text access.
Congenital cataract with LSS gene mutations: a new case report.
Journal of Pediatric Endocrinology & Metabolism : JPEM 2017 October 27
BACKGROUND: Congenital cataract is one of the major causes of blindness and amblyopia in children. About one-third of the cases are inherited.
CASE PRESENTATION: We applied whole exome sequencing for a pediatric patient with congenital cataract, small penis, baldness and absence of eyebrows and detected a compound heterozygous mutation in the lanosterol synthase (LSS) gene. These two mutations were inherited from the patient's parents. Both mutations altered the amino acid coding, at highly conserved amino acid residues.
CONCLUSIONS: We concluded that the mutations affect the structural stability of the protein to some extent.
CASE PRESENTATION: We applied whole exome sequencing for a pediatric patient with congenital cataract, small penis, baldness and absence of eyebrows and detected a compound heterozygous mutation in the lanosterol synthase (LSS) gene. These two mutations were inherited from the patient's parents. Both mutations altered the amino acid coding, at highly conserved amino acid residues.
CONCLUSIONS: We concluded that the mutations affect the structural stability of the protein to some extent.
Full text links
Related Resources
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app
All material on this website is protected by copyright, Copyright © 1994-2024 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.
By using this service, you agree to our terms of use and privacy policy.
Your Privacy Choices
You can now claim free CME credits for this literature searchClaim now
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app