Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles

Premature fusion of the cranial sutures (craniosynostosis), affecting 1 in 2000 newborns, is treated surgically in infancy to prevent adverse neurologic outcomes. To identify mutations contributing to common non-syndromic midline (sagittal and metopic) craniosynostosis, we performed exome sequencing...

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Bibliografske podrobnosti
izdano v:eLife
Main Authors: Timberlake, Andrew T, Choi, Jungmin, Zaidi, Samir, Lu, Qiongshi, Nelson-Williams, Carol, Brooks, Eric D, Bilguvar, Kaya, Tikhonova, Irina, Mane, Shrikant, Yang, Jenny F, Sawh-Martinez, Rajendra, Persing, Sarah, Zellner, Elizabeth G, Loring, Erin, Chuang, Carolyn, Galm, Amy, Hashim, Peter W, Steinbacher, Derek M, DiLuna, Michael L, Duncan, Charles C, Pelphrey, Kevin A, Zhao, Hongyu, Persing, John A, Lifton, Richard P
Format: Artigo
Jezik:Inglês
Izdano: eLife Sciences Publications, Ltd 2016
Teme:
Genes and Chromosomes
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC5045293/
https://ncbi.nlm.nih.gov/pubmed/27606499
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7554/eLife.20125
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