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A patient with an interstitial deletion in Xp22.3 locates the gene for X-linked recessive chondrodysplasia punctata to within a one megabase interval

A male patient carrying an interstitial deletion in Xp22.3 and affected by Kallmann syndrome, X-linked ichthyosis and mental retardation, but without chondrodysplasia punctata or short stature, was investigated with molecular probes from the distal Xp22.3 region. By means of a novel probe, M115, fro...

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Main Authors: Klink, Albrecht (Author) , Meindl, Alfons (Author) , Hellebrand, Heide (Author) , Rappold, Gudrun (Author)
Format: Article (Journal)
Language:English
Published: April 1994
In: Human genetics
Year: 1994, Volume: 93, Issue: 4, Pages: 463-466
ISSN:1432-1203
DOI:10.1007/BF00201677
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1007/BF00201677
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Author Notes:Albrecht Klink, Alfons Meindl, Heide Hellebrand, Gudrun A. Rappold

MARC

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