A novel homozygous variant in the SMOC1 gene underlying Waardenburg anophthalmia syndrome-Reference-Cited by-同舟云学术

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A novel homozygous variant in the SMOC1 gene underlying Waardenburg anophthalmia syndrome

Published:2017-01-13 Issue:4 Volume:38 Page:335-339
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Ullah Asmat¹,Umair Muhammad¹,Ahmad Farooq¹,Muhammad Dost²,Basit Sulman³,Ahmad Wasim¹

Affiliation:

1. Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan

2. Chandka Medical College, Shaheed Mohtarma Benazir Bhutto Medical University, Larkana, Pakistan

3. Center for Genetics and Inherited Diseases, Taibah University, Medina, Saudi Arabia

Publisher

Informa UK Limited

Subject

Genetics (clinical),Ophthalmology,Pediatrics, Perinatology and Child Health

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2016.1227456

Reference11 articles.

1. A locus for ophthalmo-acromelic syndrome mapped to 10p11.23

2. Mutations in the SPARC-Related Modular Calcium-Binding Protein 1 Gene, SMOC1, Cause Waardenburg Anophthalmia Syndrome

3. SMOC1 Is Essential for Ocular and Limb Development in Humans and Mice

4. Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice

Cited by 8 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. Identification of novel homozygous variants in FOXE3 and AP4M1 underlying congenital syndromic anophthalmia and microphthalmia;The Journal of Gene Medicine;2023-09-27

2. SMOC-1 interacts with both BMP and glypican to regulate BMP signaling in C. elegans;PLOS Biology;2023-08-17

3. Identification of two variants in PAX3 and FBN1 in a Chinese family with Waardenburg and Marfan syndrome via whole exome sequencing;Functional & Integrative Genomics;2023-03-31

4. C. elegansSMOC-1 interacts with both BMP and glypican to regulate BMP signaling;2023-01-08

5. A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants;European Journal of Medical Genetics;2019-11

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