A novel mutation in the Espin gene causes autosomal recessive nonsyndromic hearing loss but no apparent vestibular dysfunction in a Moroccan family.
Boulouiz
Redouane
R
Department of Genetics, Institut Pasteur du Maroc, Casablanca, Morocco. redouane.boulouiz@pasteur.ma
Li
Yun
Y
Soualhine
Hafid
H
Abidi
Omar
O
Chafik
Abdelaziz
A
Nürnberg
Gudrun
G
Becker
Christian
C
Nürnberg
Peter
P
Kubisch
Christian
C
Wollnik
Bernd
B
Barakat
Abdelhamid
A
D000293:Adolescent; D019943:Amino Acid Substitution; D002648:Child; D016368:Frameshift Mutation; D005808:Genes, Recessive; D034381:Hearing Loss / Q000151:congenital* / Q000235:genetics*; D006801:Humans; D008840:Microfilament Proteins / Q000235:genetics*; D008875:Middle Aged; D009018:Morocco; D009154:Mutation; D020125:Mutation, Missense; D010375:Pedigree; D011446:Prospective Studies; D017422:Sequence Analysis, DNA; D015837:Vestibular Diseases / Q000235:genetics; D055815:Young Adult
C493274:ESPN protein, human; D008840:Microfilament Proteins