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A novel de-novo frameshift mutation of the ASXL1 gene in a classic case of Bohring–Opitz syndrome

Arunachal, Gautham; Danda, Sumita; Omprakash, Sabita; Kumar, Sathish

doi: 10.1097/MCD.0000000000000126

aDepartment of Clinical Genetics

bDepartment of Paediatrics, Christian Medical College, MGR University, Tamil Nadu, India

Correspondence to Gautham Arunachal, MBBS, MD, PDF, Department of Clinical Genetics, Christian Medical College and Hospital Vellore, MGR University, Vellore, Tamil Nadu 632004, India Tel: +91 416 228 3161; e-mail:

Received August 30, 2015

Accepted March 14, 2016

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