Associated Papers
Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling.
Amyere M et al.
Circulation, 2017
A genotype-phenotype correlation in Sicilian patients with GJB2 biallelic mutations.
Martines F et al.
European Archives of Oto-rhino-laryngology : Official Journal of the European Federation of Oto-rhino-laryngological Societies (eufos) : Affiliated With the German Society for Oto-rhino-laryngology - Head and Neck Surgery, 2015
Audiologic phenotype and progression in GJB2 (Connexin 26) hearing loss.
Kenna MA et al.
Archives of Otolaryngology--head & Neck Surgery, 2010
GJB2 mutations and degree of hearing loss: a multicenter study.
Snoeckx RL et al.
American Journal of Human Genetics, 2005
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