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PMID: 830452 Published · ppublish English Case Reports Journal Article

Sex-linked chondrodysplasia punctata?

Clinical genetics ·Vol. 11 ·No. 1 ·1977-01-00 ·Pages 73-6

Happle R, Matthiass HH, Macher E

Abstract

Widespread atrophic lesions and pigmentary disturbances of the skin distributed in a linear or whorled pattern, are seen in some patients with chondrodysplasia punctata of the Conradi-Hünermann type. Arguments are presented in favor of the hypothesis that this association of anomalies constitutes a distinct genetic disorder, which is inherited as an X-linked dominant trait lethal in hemizygous males.

MeSH Terms
Adolescent Atrophy Chondrodysplasia Punctata/complications,genetics Female Genetic Linkage Humans Pigmentation Disorders/complications,genetics Sex Chromosomes Skin/pathology
Authors & Affiliations
3 authors, click to expand affiliations / ORCID
Happle R
Matthiass H H
Macher E
Article Info
Journal
Clinical genetics
Abbr.
Clin Genet
ISSN
0009-9163
Published
1977-01-00
Pages
73-6
Language
English
Region
Denmark
NLM ID
0253664
Subset
IM
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