X-linked dominant chondrodysplasia punctata: a peroxisomal disorder?
Am J Med Genet
; 78(3): 300-2, 1998 Jul 07.
Article
em En
| MEDLINE
| ID: mdl-9677071
ABSTRACT
X-linked dominant chondrodysplasia punctata is characterised by resolving irregular punctate calcifications of epiphyses, variable ichthyosis and atrophoderma, short stature, and cataracts. We report on a patient with this syndrome who had transiently abnormal peroxisomal function tests. We review the literature and propose that X-linked dominant chondrodysplasia punctata is a peroxisomal disorder and that its phenotype can be explained by X chromosome lyonisation and the relative proliferation of cells expressing the normal X allele.
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Base de dados:
MEDLINE
Assunto principal:
Cromossomo X
/
Condrodisplasia Punctata
/
Transtornos Peroxissômicos
Limite:
Female
/
Humans
/
Newborn
Idioma:
En
Revista:
Am J Med Genet
Ano de publicação:
1998
Tipo de documento:
Article
País de afiliação:
Nova Zelândia