A Novel SIX3 Mutation Segregates With Holoprosencephaly in a Large Family

Holoprosencephaly is the most common structural malformation of the forebrain in humans and has a complex etiology including chromosomal aberrations, single gene mutations and environmental components. Here we present the pertinent clinical findings among members of an unusually large kindred ascert...

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Hlavní autoři: Solomon, Benjamin D., Lacbawan, Felicitas, Jain, Mahim, Domené, Sabina, Roessler, Erich, Moore, Cynthia, Dobyns, William B., Muenke, Maximilian
Médium: Artigo
Jazyk:Inglês
Vydáno: 2009
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2737713/
https://ncbi.nlm.nih.gov/pubmed/19353631
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.32813
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