Recessive Mutations in SLC38A8 Cause Foveal Hypoplasia and Optic Nerve Misrouting without Albinism-Reference-Cited by-同舟云学术

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

Published:2013-12 Issue:6 Volume:93 Page:1143-1150
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Poulter James A.,Al-Araimi Musallam,Conte Ivan,van Genderen Maria M.,Sheridan Eamonn,Carr Ian M.,Parry David A.,Shires Mike,Carrella Sabrina,Bradbury John,Khan Kamron,Lakeman Phillis,Sergouniotis Panagiotis I.,Webster Andrew R.,Moore Anthony T.,Pal Bishwanath,Mohamed Moin D.,Venkataramana Anandula,Ramprasad Vedam,Shetty Rohit,Saktivel Murugan,Kumaramanickavel Govindasamy,Tan Alex,Mackey David A.,Hewitt Alex W.,Banfi Sandro,Ali Manir,Inglehearn Chris F.,Toomes Carmel

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference31 articles.

1. Developmental macular disorders: phenotypes and underlying molecular genetic basis;Michaelides;Br. J. Ophthalmol.,2012

2. A review of genetic disorders of hypopigmentation: lessons learned from the biology of melanocytes;Dessinioti;Exp. Dermatol.,2009

3. Signaling pathways in melanosome biogenesis and pathology;Schiaffino;Int. J. Biochem. Cell Biol.,2010

4. 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;Mol. Vis.,2013

5. A new phenotype of recessively inherited foveal hypoplasia and anterior segment dysgenesis maps to a locus on chromosome 16q23.2-24.2;Pal;J. Med. Genet.,2004

Cited by 75 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. Expanding the mutational and phenotypical spectrum of FHONDA syndrome;European Journal of Ophthalmology;2024-09-13

2. Crossed VEP asymmetry in a patient with AHR-linked infantile nystagmus and foveal hypoplasia;Documenta Ophthalmologica;2024-06-26

3. Electrodiagnostic tests of the visual pathway and applications in neuro-ophthalmology;Eye;2024-06-11

4. Isolated foveal hypoplasia: A case series;Kerala Journal of Ophthalmology;2024-05

5. Novel pathogenic variants of SLC38A8 gene and literature review;European Journal of Ophthalmology;2024-03-22