Article
HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study.
BMJ open - 29 Apr 2016
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
Abstract excerpt
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 XLID genes and identifying novel mutations in known XLID genes for many of these syndromes. METHODS: 2 NGS...
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