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

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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Bibliographic Details
Main Authors: Jozef Gecz, Raman Kumar, Roger E Stevenson, Michael Field, Michael J Friez, Susan Sklower Brooks, Monica J Basehore, Lesley C Adès, Courtney Sebold, Stephen McGee, Samantha Saxon, Cindy Skinner, Maria E Craig, Lucy Murray, Richard J Simensen, Ying Yzu Yap, Marie A Shaw, Alison Gardner, Mark Corbett, Matthias Bosshard, Barbara van Loon, Patrick S Tarpey, Fatima Abidi, Charles E Schwartz
Format: Article
Language:English
Published: BMJ Publishing Group 2016-04-01
Series:BMJ Open
Online Access:https://bmjopen.bmj.com/content/6/4/e009537.full

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https://bmjopen.bmj.com/content/6/4/e009537.full

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