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A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene

We report two brothers from a consanguineous couple with spondyloepimetaphyseal dysplasia (SEMD), multiple joint dislocations at birth, severe joint laxity, scoliosis, gracile metacarpals and metatarsals, delayed bone age and poorly ossified carpal and tarsal bones, probably representing a yet uncha...

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Dades bibliogràfiques
Publicat a:Eur J Hum Genet
Autors principals: Girisha, Katta Mohan, Kortüm, Fanny, Shah, Hitesh, Alawi, Malik, Dalal, Ashwin, Bhavani, Gandham SriLakshmi, Kutsche, Kerstin
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group 2016
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4970677/
https://ncbi.nlm.nih.gov/pubmed/26669664
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2015.261
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