Article
A missense mutation in DDRGK1 gene associated to Shohat-type spondyloepimetaphyseal dysplasia: Two case reports and a review of literature.
American journal of medical genetics. Part A - 1 Aug 2022
Franceschi Roberto, Iascone Maria, Maitz Silvia, Marchetti Daniela, Mariani Milena, Selicorni Angelo, Soffiati Massimo, Maines Evelina
Abstract excerpt
Spondylo-epi-metaphyseal dysplasia Shohat type (SEMDSH, OMIM # 602557) is a rare skeletal dysplasia. Until recently, only eight patients of five families have been reported. The disorder is characterized by severely disproportionate short stature with a short neck, small trunk with abdominal distension, and short lower limbs. Joint laxity and bowed legs are seen. The same homozygous splicing pathogenic variant in...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.