Ophthalmic Paediatr Genet. 1990 Sep;11(3):201-7.

The Yemenite deaf-blind hypopigmentation syndrome. A new oculo-dermato-auditory syndrome.

Warburg M, Tommerup N, Vestermark S, Parving A, Weismann K, Russell B, Thomsen HK.

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Department of Ophthalmology, University Hospital, Gentofte, Denmark.

Abstract

We have seen a Yemenite sister and brother with cutaneous hypomelanotic and pigmented spots and patches, microcornea, coloboma, severe hearing loss and normal karyotypes. Histopathological examinations of the skin showed absent melanocytes in the depigmented areas; in the normal and hyperpigmented skin there was abundant melanotic pigment. Similar patients have not been described previously, but there are corresponding mutations in mice and rats.

PMID:: 2280978; [PubMed - indexed for MEDLINE]

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Ophthalmic Paediatr Genet. 1990 Sep ;11(3):201-7.

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