Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta.

DA, Parry; AJ, Mighell; W, El-Sayed; RC, Shore; IK, Jalili; H, Dollfus; A, Bloch-Zupan; R, Carlos; IM, Carr; LM, Downey; KM, Blain; DC, Mansfield; M, Shahrabi; M, Heidari; P, Aref; M, Abbasi; M, Michaelides; AT, Moore; J, Kirkham; CF, Inglehearn

doi:10.1016/j.ajhg.2009.01.009

Public

Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta.

Shared by NobleBlocks on Feb 5, 2009 • 12:00 AM UTC

Authors:

Parry DA

Mighell AJ

El-Sayed W

Abstract

The combination of recessively inherited cone-rod dystrophy (CRD) and amelogenesis imperfecta (AI) was first reported by Jalili and Smith in 1988 in a family subsequently linked to a locus on chromosome 2q11, and it has since been reported in a second small family. We have identified five further et...

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