Cargando...

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...

Descrición completa

Gardado en:
Detalles Bibliográficos
Main Authors: Solomon, Benjamin D., Lacbawan, Felicitas, Jain, Mahim, Domené, Sabina, Roessler, Erich, Moore, Cynthia, Dobyns, William B., Muenke, Maximilian
Formato: Artigo
Idioma:Inglês
Publicado: 2009
Assuntos:
Acceso en liña: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
Tags: Engadir etiqueta
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!