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Aplasia cutis congenita with chromosome 12q abnormality.

A 32 week, small for dates baby with aplasia cutis congenita had an unbalanced translocation, being monosomic for distal 12q and trisomic for distal 1q. As far as is known, the association between extensive skin defects and a chromosomal abnormality has not been reported before. Keratin genes have b...

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Detalhes bibliográficos
Main Authors: Khan, J. Y., Moss, C., Roper, H. P.
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 1995
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2528456/
https://ncbi.nlm.nih.gov/pubmed/7796242
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