Co-occurrence of frameshift mutations in SMAD6 and TCF12 in a child with complex craniosynostosis

Non-syndromic craniosynostosis (CS) affects 1 in 2350 live births. Recent studies have shown that a significant fraction of cases are caused by de novo or rare transmitted mutations that promote premature osteoblast differentiation in cranial sutures. Rare heterozygous loss-of-function (LOF) mutatio...

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Detalles Bibliográficos
Autores principales: Timberlake, Andrew T., Wu, Robin, Nelson-Williams, Carol, Furey, Charuta G., Hildebrand, Kristi I., Elton, Scott W., Wood, Jeyhan S., Persing, John A., Lifton, Richard P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6023907/
https://www.ncbi.nlm.nih.gov/pubmed/30038786
http://dx.doi.org/10.1038/s41439-018-0014-x

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