De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

Overview of attention for article published in Nature Genetics, June 2011

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English

Bohring–Opitz syndrome

Cited by user Hqb on 05 Feb 2014

Bohring–Opitz syndrome (BOS) is a medical syndrome characterised by characteristic craniofacial appearance, fixed contractures of the upper limbs and abnormal posture…