Exome sequencing in patients with microphthalmia, anophthalmia, and coloboma ( MAC ) from a consanguineous population-Reference-Cited by-同舟云学术

Exome sequencing in patients with microphthalmia, anophthalmia, and coloboma ( MAC ) from a consanguineous population

Published:2020-09-03 Issue:5 Volume:98 Page:499-506
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Islam Farrah¹,Htun Stephanie²,Lai Li‐Wen³,Krall Max²,Poranki Menitha²,Martin Pierre‐Marie⁴,Sobreira Nara⁵,Wohler Elizabeth S.⁵,Yu Jingwei⁶^ORCID,Moore Anthony T.⁷,Slavotinek Anne M.²^ORCID

Affiliation:

1. Department of Ophthalmology Al‐Shifa Eye Trust Hospital Rawalpindi Pakistan

2. Division of Genetics, Department of Pediatrics University of California San Francisco San Francisco California USA

3. Department of Pathology University of Arizona Tucson Arizona USA

4. Institute of Human Genetics University of California San Francisco San Francisco California USA

5. McKusick‐Nathans Department of Genetic Medicine Johns Hopkins University School of Medicine Baltimore Maryland USA

6. Department of Laboratory Medicine University of California San Francisco San Francisco California USA

7. Dept. Ophthalmology University of California San Francisco San Francisco California USA

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13830

Reference30 articles.

1. Genetic investigation of 93 families with microphthalmia or posterior microphthalmos

2. Eye Development

3. Genetics of anophthalmia and microphthalmia. Part 2: Syndromes associated with anophthalmia–microphthalmia

4. Genetic analysis of consanguineous families presenting with congenital ocular defects

5. New Tools for Mendelian Disease Gene Identification: PhenoDB Variant Analysis Module; and GeneMatcher, a Web-Based Tool for Linking Investigators with an Interest in the Same Gene

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