New Case Study

The Department of clinical genetics and pediatrics, Christian Medical College Vellore, India published a new case study on Bohring-Opitz Syndrome in Clinical Dysmorphology, April 7, 2016. The authors presented a baby girl with a novel de-novo frameshift mutation of the ASXL1 gene who shows the features of a classic case of Bohring-Opitz syndrome.

» Read here the case study “A novel de-novo frameshift mutation of the ASXL1 gene in a classic case of Bohring-Opitz syndrome” of the authors Arunachal, Gautham; Danda, Sumita; Omprakash, Sabita and Kumar, Sathish.

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