A Novel Missense Mutation in SRD5A3 Causes Congenital Disorder of Glycosylation Type I (Cerebello-Ocular Syndrome)-Reference-Cited by-同舟云学术

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A Novel Missense Mutation in SRD5A3 Causes Congenital Disorder of Glycosylation Type I (Cerebello-Ocular Syndrome)

Published:2014-03-07 Issue: Volume:2 Page:232640981455052
ISSN:2326-4098
Container-title:Journal of Inborn Errors of Metabolism and Screening
language:en
Short-container-title:Journal of Inborn Errors of Metabolism and Screening

Author:

Al-Sarraj Yasser¹,Ben-Omran Tawfeg²³,Tolefat Mohammed⁴,Bejaoui Yosra¹,El-Shanti Hatem¹⁵,Kambouris Marios¹⁶

Affiliation:

1. Qatar Biomedical Research Institute, Medical Genetics Center, Doha, Qatar

2. Clinical & Metabolic Genetics, Hamad Medical Corporation, Doha, Qatar

3. Weill Cornell Medical College, Doha, Qatar

4. Shafallah Medical Genetics Center, Doha, Qatar

5. Pediatrics, University of Iowa, Iowa City, IA, USA

6. Genetics, Yale University School of Medicine, New Haven, CT, USA

Publisher

FapUNIFESP (SciELO)

Subject

Genetics(clinical),Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology, and Child Health

Link

http://journals.sagepub.com/doi/pdf/10.1177/2326409814550528

Reference11 articles.

1. HomozygosityMapper--an interactive approach to homozygosity mapping

2. An autosomal recessive syndrome of severe mental retardation, cataract, coloboma and kyphosis maps to the pericentromeric region of chromosome 4

3. SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder

4. SIFT: predicting amino acid changes that affect protein function

5. Human non-synonymous SNPs: server and survey

Cited by 3 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. SRD5A3‐CDG : 3D structure modeling, clinical spectrum, and computer‐based dysmorphic facial recognition;American Journal of Medical Genetics Part A;2021-01-06

2. SRD5A3 defective congenital disorder of glycosylation: clinical utility gene card;European Journal of Human Genetics;2020-05-18

3. Review of SRD5A3 Disease-Causing Sequence Variants and Ocular Findings in Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation, and a Detailed New Case;Folia Biologica;2019

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