Deletions and de novo mutations ofSOX11are associated with a neurodevelopmental disorder with features of Coffin

Deletions and de novo mutations ofSOX11are associated with a neurodevelopmental disorder with features of Coffin–Siris syndrome

Published:2015-11-05 Issue:3 Volume:53 Page:152-162
ISSN:0022-2593
Container-title:Journal of Medical Genetics
language:en
Short-container-title:J Med Genet

Author:

Hempel Annmarie,Pagnamenta Alistair T,Blyth Moira,Mansour Sahar,McConnell Vivienne,Kou Ikuyo,Ikegawa Shiro,Tsurusaki Yoshinori,Matsumoto Naomichi,Lo-Castro Adriana,Plessis Ghislaine,Albrecht Beate,Battaglia Agatino,Taylor Jenny C,Howard Malcolm F,Keays David,Sohal Aman Singh,Kühl Susanne J,Kini Usha,McNeill Alisdair,

Publisher

BMJ

Subject

Genetics (clinical),Genetics

Reference32 articles.

1. Keeping an eye on SOXC proteins;Pillai-Kastoori;Dev Dyn,2015

2. Neurogenesis in the embryonic and adult brain: same regulators, different roles;Urban;Front Cell Neurosci,2014

3. Transcription factor SOX11 is essential for both embryonic and adult neurogenesis;Wang;Dev Dyn,2013

4. SOX11 is required to maintain proper levels of hedgehog signalling during vertebrate ocular morphogenesis;Pillai-Kastoori;PLoS Genet,2014

5. SOX10 mutations in patients with Waardenburg-Hirschprung disease;Pingault;Nat Genet,1998

Cited by 65 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. SEM-2/SoxC regulates multiple aspects ofC. eleganspostembryonic mesoderm development;2024-07-04

2. Identification of a novel phenotype of external ear deformity related to Coffin–Siris syndrome‐9 and literature review;American Journal of Medical Genetics Part A;2024-04-09

3. Landscape of Constitutional SOX4 Variation in Human Disorders;Genes;2024-01-25

4. Novel variants in the SOX11 gene: additional evidence for the involvement of SOX11 in hypogonadotropic hypogonadism;2024-01-17

5. Short report: Behavioural characterisation of SOX11 syndrome;Research in Developmental Disabilities;2023-12