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Mutations in the human SIX3 gene in holoprosencephaly are loss of function

Holoprosencephaly (HPE) is the most common developmental anomaly of the human forebrain; however, the genetics of this heterogeneous and etiologically complex malformation is incompletely understood. Heterozygous mutations in SIX3, a transcription factor gene expressed in the anterior forebrain and...

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Detalhes bibliográficos
Main Authors: Domené, Sabina, Roessler, Erich, El-Jaick, Kenia B., Snir, Mirit, Brown, Jamie L., Vélez, Jorge I., Bale, Sherri, Lacbawan, Felicitas, Muenke, Maximilian, Feldman, Benjamin
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2008
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2733808/
https://ncbi.nlm.nih.gov/pubmed/18791198
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddn294
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