Article
Homozygous DMRT2 variant associates with severe rib malformations in a newborn.
American journal of medical genetics. Part A - 1 May 2018
Bouman Arjan, Waisfisz Quinten, Admiraal Jop, van de Loo Moniek, van Rijn Rick R, Micha Dimitra, Oostra Roelof-Jan, Mathijssen Inge B
Abstract excerpt
Spondylocostal dysostosis (SCD) is a rare disorder characterized by vertebral segmentation defects and malformations of the ribs. SCD patients have some degree of (kypho)scoliosis, short stature and suffer from respiratory impairment due to the reduced size of their thoracic cage. Mutations in DLL3, MESP2, LFNG, HES7, TBX6, and RIPPLY2 are known to cause different subtypes of SCD. Here, we report on a male...
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