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Mapping of the gene for cleidocranial dysplasia in the historical Cape Town (Arnold) kindred and evidence for locus homogeneity.

Cleidocranial dysplasia (CCD) is an autosomal dominant disorder, features of which include a patient anterior fontanelle, a bulging calvarium, hypoplasia or aplasia of the clavicles, a wide public symphysis, dental anomalies, vertebral malformation, and short stature. The Cape Town kindred which is...

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Detalhes bibliográficos
Main Authors: Ramesar, R S, Greenberg, J, Martin, R, Goliath, R, Bardien, S, Mundlos, S, Beighton, P
Formato: Artigo
Idioma:Inglês
Publicado em: 1996
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1050640/
https://ncbi.nlm.nih.gov/pubmed/8782054
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