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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Detalles Bibliográficos
Autores principales: Aguinaga, M., Llano, I., Zenteno, J. C., Kofman Alfaro, S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2011
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3447223/
https://www.ncbi.nlm.nih.gov/pubmed/23074678
http://dx.doi.org/10.1155/2011/703497

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3447223/
https://www.ncbi.nlm.nih.gov/pubmed/23074678
http://dx.doi.org/10.1155/2011/703497

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