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  • Title: A missense mutation in DDRGK1 gene associated to Shohat-type spondyloepimetaphyseal dysplasia: Two case reports and a review of literature.
    Author: Franceschi R, Iascone M, Maitz S, Marchetti D, Mariani M, Selicorni A, Soffiati M, Maines E.
    Journal: Am J Med Genet A; 2022 Aug; 188(8):2434-2437. PubMed ID: 35670300.
    Abstract:
    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 the DDRGK1 gene was found in four Iraqi families. Here we report a homozygous missense pathogenic variant in DDRGK1 in two children from unrelated two Moroccan families. The clinical and radiological phenotypes of the affected children were similar to those previously described.
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