Characterization of an Emirati TMEM138 mutation leading to Joubert syndrome
Author:
Affiliation:
1. Centre for Arab Genomic Studies; Dubai United Arab Emirates
2. Pediatric Department; Latifa Hospital; Dubai Health Authority; Dubai United Arab Emirates
Publisher
Wiley
Subject
Pediatrics, Perinatology, and Child Health
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/ped.13158/fullpdf
Reference5 articles.
1. Joubert syndrome: congenital cerebellar ataxia with the molar tooth;Romani;Lancet Neurol.,2013
2. Mutation spectrum of Joubert syndrome and related disorders among Arabs;Ben-Salem;Hum. Genome Var.,2014
3. Evolutionarily assembled cis-regulatory module at a human ciliopathy locus;Lee;Science,2012
4. Distinguishing the four genetic causes of Jouberts syndrome-related disorders;Valente;Ann. Neurol.,2005
5. Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3;Keeler;Am. J. Hum. Genet.,2003
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