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Molecular-cytogenetic detection of a deletion of 1p36.3.

We report a deletion of 1p36.3 in a child with microcephaly, mental retardation, broad forehead, deep set eyes, depressed nasal bridge, flat midface, relative prognathism, and abnormal ears. The phenotype is consistent with that described for partial monosomy for 1p36.3. Reverse chromosome painting...

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Detalhes bibliográficos
Main Authors: Giraudeau, F, Aubert, D, Young, I, Horsley, S, Knight, S, Kearney, L, Vergnaud, G, Flint, J
Formato: Artigo
Idioma:English
Publicado em: 1997
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1050919/
https://ncbi.nlm.nih.gov/pubmed/9138156
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