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Novel Sonic Hedgehog Mutation in a Couple with Variable Expression of Holoprosencephaly

Holoprosencephaly (HPE) is the most common developmental defect of the forebrain and midface in humans. sporadic and inherited mutations in the human sonic hedgehog (SHH) gene cause 37% of familial HPE. A couple was referred to our unit with a family history of two spontaneous first trimester miscar...

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Detalhes bibliográficos
Principais autores: Aguinaga, M., Llano, I., Zenteno, J. C., Kofman Alfaro, S.
Formato: Artigo
Idioma:Inglês
Publicado em: Hindawi Publishing Corporation 2011
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3447223/
https://ncbi.nlm.nih.gov/pubmed/23074678
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2011/703497
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