TFAP2A mutation in a child and mother with predominantly ocular anomalies: non-classical presentation of branchio-oculo-facial syndrome-Reference-Cited by-同舟云学术

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TFAP2A mutation in a child and mother with predominantly ocular anomalies: non-classical presentation of branchio-oculo-facial syndrome

Published:2019-10 Issue:4 Volume:28 Page:215-218
ISSN:0962-8827
Container-title:Clinical Dysmorphology
language:en
Short-container-title:

Author:

Si-Min Ng Pamela,Khan Shazia,Lim Jiin Ying,Chew-Yin Goh Jasmine,Lin Grace Xiulin,Wei Heming,Tan Ene Choo,Jamuar Saumya Shekhar

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Genetics(clinical),General Medicine,Pathology and Forensic Medicine,Anatomy,Pediatrics, Perinatology, and Child Health

Reference13 articles.

1. A global reference for human genetic variation.;Auton;Nature,2015

2. AP-2alpha knockout mice exhibit optic cup patterning defects and failure of optic stalk morphogenesis.;Bassett;Hum Mol Genet,2010

3. Correction: population genomics in South East Asia captures unexpectedly high carrier frequency for treatable inherited disorders.;Bylstra;Genet Med,2018

4. A family with branchio-oculo-facial syndrome with primarily ocular involvement associated with mutation of the TFAP2A gene.;Dumitrescu;Ophthalmic Genet,2012

5. Clinvar: public archive of relationships among sequence variation and human phenotype.;Landrum;Nucleic Acids Res,2014

Cited by 2 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. A New Case and Comprehensive Review of the Ophthalmic Manifestations of 172 Individuals With Branchio-Oculo-Facial Syndrome;Journal of Pediatric Ophthalmology & Strabismus;2022-10-20

2. A Heterozygous Novel Mutation in TFAP2A Gene Causes Atypical Branchio-Oculo-Facial Syndrome With Isolated Coloboma of Choroid: A Case Report;Frontiers in Pediatrics;2020-07-17

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