article_metadata: Leen Abu Safieh Humoud M Al-Otaibi Richard Alan Lewis Igor Kozak
article_metadata: 10.4103/0974-9233.171779
article_metadata: Middle East Afr J Ophthalmol
article_metadata: 2016 Jan-Mar;23(1):139-41.
article_metadata: alström syndrome congenital retinal dystrophy leber congenital amaurosis
article_metadata: CC BY-NC-SA
article_metadata: https://pubmed.ncbi.nlm.nih.gov/26957854/
article_metadata: Alstrom Syndrome / genetics Guanylate Cyclase / genetics Leber Congenital Amaurosis / genetics Mutation, Missense Proteins / genetics Receptors, Cell Surface / genetics Retina / physiology Retinal Dystrophies / genetics
article_metadata: 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
article_metadata: PMC4759893
article_metadata: 26957854
article_metadata: Novel Mutations in Two Saudi Patients with Congenital Retinal Dystrophy
article_metadata: 2016