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A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22.

X linked recessive deafness accounts for only 1.7% of all childhood deafness. Only a few of the at least 28 different X linked syndromes associated with hearing impairment have been characterised at the molecular level. In 1960, a large Norwegian family was reported with early onset progressive sens...

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Bibliografiske detaljer
Main Authors: Tranebjaerg, L, Schwartz, C, Eriksen, H, Andreasson, S, Ponjavic, V, Dahl, A, Stevenson, R E, May, M, Arena, F, Barker, D
Format: Artigo
Sprog:Inglês
Udgivet: 1995
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1050371/
https://ncbi.nlm.nih.gov/pubmed/7643352
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