Segregation of two variants suggests the presence of autosomal dominant and recessive forms of

Autor:	Laina, Lusk, Emily, Black, Jaime, Vengoechea
Rok vydání:	2018
Předmět:	Adult Arthrogryposis Male Adolescent Hearing Loss Sensorineural Membrane Proteins Wolfram Syndrome Middle Aged Pedigree Optic Atrophy Young Adult Phenotype Mutation Humans Female Child Aged
Zdroj:	Journal of medical genetics. 57(2)
ISSN:	1468-6244
Popis:	We seek to report a family that appears to segregate dominant and recessive forms ofA 19-year-old woman presented with progressive childhood sensorineural hearing loss and recent optic atrophy, with biallelic mutations inThe clinical correlation of the variants identified in this family suggests an AR Wolfram-like syndrome, without the typical diabetes mellitus or diabetes insipidus nor neurological decline. To our knowledge, this is a novel
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::d6c4dfe344a3009920631fbb6dc447e8 https://pubmed.ncbi.nlm.nih.gov/31363008 Zobrazit plný text záznamu