Expanding the mutational spectrum of FHONDA syndrome-Reference-Cited by-同舟云学术

Expanding the mutational spectrum of FHONDA syndrome

Published:2023-02-07 Issue:6 Volume:44 Page:602-605
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Shoji Marissa K.¹,Khodeiry Mohamed M.¹,Sengillo Jesse D.¹,Mendoza Carlos¹

Affiliation:

1. Bascom Palmer Eye Institute, University of Miami, Miami, Florida, USA

Funder

Research to Prevent Blindness

Publisher

Informa UK Limited

Subject

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

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2023.2175873

Reference10 articles.

1. The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences

2. A new recessively inherited disorder composed of foveal hypoplasia, optic nerve decussation defects and anterior segment dysgenesis maps to chromosome 16q23.3-24.1;Al-Araimi M;Mol Vis,2013

3. Recessive Mutations in SLC38A8 Cause Foveal Hypoplasia and Optic Nerve Misrouting without Albinism

4. A new phenotype of recessively inherited foveal hypoplasia and anterior segment dysgenesis maps to a locus on chromosome 16q23.2-24.2.

5. The pathogenicity of SLC38A8 in five families with foveal hypoplasia and congenital nystagmus

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 Slc38a8 Mouse Model of FHONDA Syndrome Faithfully Recapitulates the Visual Deficits of Albinism Without Pigmentation Defects;Investigative Opthalmology & Visual Science;2023-10-20

2. A slc38a8 mouse model of FHONDA syndrome faithfully recapitulates the visual deficits of albinism without pigmentation defects;2023-08-19