Loss-of-function mutations and global rearrangements in GPC3 in patients with Simpson–Golabi–Behmel syndrome

Simpson–Golabi–Behmel syndrome is a congenital malformation syndrome associated with mutations in GPC3, which is located in the Xq26 region. Three new loss-of-function mutations and a global X-chromosome rearrangement involving GPC3 were identified. A female sibling of the patient, who presented wit...

Descripción completa

Detalles Bibliográficos
Autores principales: Shimojima, Keiko, Ondo, Yumiko, Nishi, Eriko, Mizuno, Seiji, Ito, Miharu, Ioi, Aya, Shimizu, Mariko, Sato, Maho, Inoue, Masami, Okamoto, Nobuhiko, Yamamoto, Toshiyuki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5061924/
https://www.ncbi.nlm.nih.gov/pubmed/27790374
http://dx.doi.org/10.1038/hgv.2016.33

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5061924/
https://www.ncbi.nlm.nih.gov/pubmed/27790374
http://dx.doi.org/10.1038/hgv.2016.33

Ejemplares similares