Mutations in Hedgehog Acyltransferase (Hhat) Perturb Hedgehog Signaling, Resulting in Severe Acrania-Holoprosencephaly-Agnathia Craniofacial Defects

Holoprosencephaly (HPE) is a failure of the forebrain to bifurcate and is the most common structural malformation of the embryonic brain. Mutations in SHH underlie most familial (17%) cases of HPE; and, consistent with this, Shh is expressed in midline embryonic cells and tissues and their derivativ...

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Detalles Bibliográficos
Autores principales: Dennis, Jennifer F., Kurosaka, Hiroshi, Iulianella, Angelo, Pace, Jennifer, Thomas, Nancy, Beckham, Sharon, Williams, Trevor, Trainor, Paul A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3464201/
https://www.ncbi.nlm.nih.gov/pubmed/23055936
http://dx.doi.org/10.1371/journal.pgen.1002927

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3464201/
https://www.ncbi.nlm.nih.gov/pubmed/23055936
http://dx.doi.org/10.1371/journal.pgen.1002927

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