KIF21A pathogenic variants cause congenital fibrosis of extraocular muscles type 3-Reference-Cited by-同舟云学术

KIF21A pathogenic variants cause congenital fibrosis of extraocular muscles type 3

Published:2020-11-29 Issue:2 Volume:42 Page:195-199
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Al-Haddad Christiane¹,Boustany Rose-Mary²,Rachid Elza¹,Ismail Karine¹,Barry Brenda³,Chan Wai-Man³,Engle Elizabeth³⁴

Affiliation:

1. Department of Ophthalmology, American University of Beirut Medical Center, Beirut, Lebanon

2. Department of Pediatrics and Adolescent Medicine, Pediatric Neurology Division, American University of Beirut Medical Center, Beirut, Lebanon

3. Department of Neurology, Boston Children’s Hospital, Boston, Massachusetts, USA

4. Ophthalmology, Boston Children’s Hospital, Boston, Massachusetts, USA

Funder

ECE is a Howard Hughes Medical Institute Investigator

Publisher

Informa UK Limited

Subject

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

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2020.1852576

Reference16 articles.

1. The congenital cranial dysinnervation disorders

2. Congenital cranial dysinnervation disorders

3. Whitman M, Hunter DG, Engle EC. Congenital fibrosis of the extraocular muscles. 2004 Apr 27 [updated 2016 Jan 14]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2020. PMID: 20301522.

4. Identification ofKIF21AMutations as a Rare Cause of Congenital Fibrosis of the Extraocular Muscles Type 3 (CFEOM3)

5. Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1)

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