Breakpoint mapping by whole genome sequencing identifies PTH2R gene disruption in a patient with midline craniosynostosis and a de novo balanced chromosomal rearrangement

BACKGROUND: Craniosynostosis (CRS) is a premature closure of calvarial sutures caused by gene mutation or environmental factors or interaction between the two. Only a small proportion of non-syndromic CRS (NSC) patients have a known genetic cause, and thus, it would be meaningful to search for a cau...

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Detalles Bibliográficos
Autores principales: Kim, Juwon, Won, Hong-Hee, Kim, Yoonjung, Choi, Jong Rak, Yu, Nae, Lee, Kyung-A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2015
Materias:
Chromosomal Rearrangements
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4621369/
https://www.ncbi.nlm.nih.gov/pubmed/26044810
http://dx.doi.org/10.1136/jmedgenet-2015-103001

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4621369/
https://www.ncbi.nlm.nih.gov/pubmed/26044810
http://dx.doi.org/10.1136/jmedgenet-2015-103001

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