HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study

BACKGROUND: X linked intellectual disability (XLID) syndromes account for a substantial number of males with ID. Much progress has been made in identifying the genetic cause in many of the syndromes described 20–40 years ago. Next generation sequencing (NGS) has contributed to the rapid discovery of...

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Détails bibliographiques
Publié dans:BMJ Open
Auteurs principaux: Friez, Michael J, Brooks, Susan Sklower, Stevenson, Roger E, Field, Michael, Basehore, Monica J, Adès, Lesley C, Sebold, Courtney, McGee, Stephen, Saxon, Samantha, Skinner, Cindy, Craig, Maria E, Murray, Lucy, Simensen, Richard J, Yap, Ying Yzu, Shaw, Marie A, Gardner, Alison, Corbett, Mark, Kumar, Raman, Bosshard, Matthias, van Loon, Barbara, Tarpey, Patrick S, Abidi, Fatima, Gecz, Jozef, Schwartz, Charles E
Format: Artigo
Langue:Inglês
Publié: BMJ Publishing Group 2016
Sujets:
Genetics and Genomics
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4854010/
https://ncbi.nlm.nih.gov/pubmed/27130160
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bmjopen-2015-009537
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