Genetic mapping of X-linked albinism-deafness syndrome (ADFN) to Xq26.3-q27.I.

Article

Genetic mapping of X-linked albinism-deafness syndrome (ADFN) to Xq26.3-q27.I.

American journal of human genetics - 1 Jul 1990

Shiloh Y, Litvak G, Ziv Y, Lehner T, Sandkuyl L, Hildesheimer M, Buchris V, Cremers F P, Szabo P, White B N

Abstract excerpt

X-linked albinism-deafness syndrome (ADFN) was described in one Israeli Jewish family and is characterized by congenital nerve deafness and piebaldness. The ADFN mutation probably affects the migration of neural crest-derived precursors of the melanocytes. As a first step toward identifying the A...

Topics

Albinism
Deafness
Female
Genetic Carrier Screening
Genetic Linkage
Hearing Tests
Humans
Male
Mutation
Pedigree
Restriction Mapping
Syndrome
X Chromosome

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