Recessive MYF5 Mutations Cause External Ophthalmoplegia, Rib, and Vertebral Anomalies-Reference-Cited by-同舟云学术

Recessive MYF5 Mutations Cause External Ophthalmoplegia, Rib, and Vertebral Anomalies

Published:2018-07 Issue:1 Volume:103 Page:115-124
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Di Gioia Silvio Alessandro,Shaaban Sherin,Tüysüz Beyhan,Elcioglu Nursel H.,Chan Wai-Man,Robson Caroline D.,Ecklund Kirsten,Gilette Nicole M.,Hamzaoglu Azmi,Tayfun Gulsen Akay,Traboulsi Elias I.,Engle Elizabeth C.

Funder

Swiss National Science Foundation

Knights Templar Eye Foundation

Boston Children’s Hospital IDDRC

NEI

Howard Hughes Medical Institute

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference36 articles.

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2. Mrf4 determines skeletal muscle identity in Myf5:Myod double-mutant mice;Kassar-Duchossoy;Nature,2004

3. Muscles of a different ‘color’: the unusual properties of the extraocular muscles may predispose or protect them in neurogenic and myogenic disease;Porter;Neurology,1996

4. Distinct regulatory cascades govern extraocular and pharyngeal arch muscle progenitor cell fates;Sambasivan;Dev. Cell,2009

5. Targeted inactivation of the muscle regulatory gene Myf-5 results in abnormal rib development and perinatal death;Braun;Cell,1992

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1. Identification of a Novel Frameshift Variant in MYF5 Leading to External Ophthalmoplegia with Rib and Vertebral Anomalies;Genes;2024-05-27

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5. Case Report: A Novel Homozygous Mutation in MYF5 Due to Paternal Uniparental Isodisomy of Chromosome 12 in a Case of External Ophthalmoplegia With Rib and Vertebral Anomalies;Frontiers in Genetics;2022-02-03