Leen Abu Safieh Humoud M Al-Otaibi Richard Alan Lewis Igor Kozak
10.4103/0974-9233.171779
Middle East Afr J Ophthalmol
2016 Jan-Mar;23(1):139-41.
alström syndrome congenital retinal dystrophy leber congenital amaurosis
CC BY-NC-SA
https://pubmed.ncbi.nlm.nih.gov/26957854/
Alstrom Syndrome / genetics Guanylate Cyclase / genetics Leber Congenital Amaurosis / genetics Mutation, Missense Proteins / genetics Receptors, Cell Surface / genetics Retina / physiology Retinal Dystrophies / genetics
Alstrom Syndrome / genetics Guanylate Cyclase / genetics Leber Congenital Amaurosis / genetics Mutation, Missense Proteins / genetics Receptors, Cell Surface / genetics Retina / physiology Retinal Dystrophies / genetics Case Reports Alstrom Syndrome / diagnosis Alstrom Syndrome / physiopathology Cell Cycle Proteins Child Consanguinity DNA Mutational Analysis Electroretinography Female Humans Infant Leber Congenital Amaurosis / diagnosis Leber Congenital Amaurosis / physiopathology Pedigree Retinal Dystrophies / diagnosis Retinal Dystrophies / physiopathology Saudi Arabia ALMS1 protein, human Cell Cycle Proteins Proteins Receptors, Cell Surface guanylate cyclase 1 Guanylate Cyclase
PMC4759893
26957854
Novel Mutations in Two Saudi Patients with Congenital Retinal Dystrophy
2016