Article
Further delineation of the oculoauricular syndrome phenotype: A new family with a novel truncating HMX1 mutation.
Ophthalmic genetics - 1 Apr 2018
Abdel-Salam Ghada M H, Abdel-Hamid Mohamed S, Mehrez Mennat I, Kamal Ahmad M, Taher Mohamed B, Afifi Hanan H
Abstract excerpt
Biallelic HMX1 mutations cause a very rare autosomal recessive genetic disorder termed as oculoauricular syndrome (OAS) because it is characterized only by the combination of eye and ear anomalies. We identified a new family bringing to three the total families reported with this disorder. Our proband presented with anteriorly protruded ears and malformed ear pinnae in association with microphthalmia, congenital...
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