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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2016
Materias:
Genetics and Genomics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4854010/
https://www.ncbi.nlm.nih.gov/pubmed/27130160
http://dx.doi.org/10.1136/bmjopen-2015-009537

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