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Inclusion of joint laxity, recurrent patellar dislocation, and short distal ulnae as a feature of Van Den Ende-Gupta syndrome: a case report

BACKGROUND: Van Den Ende-Gupta Syndrome (VDEGS) is an extremely rare autosomal recessive syndrome with less than 20 reported families (approximately 40 patients) in the worldwide literature. CASE PRESENTATION: We have assessed one consanguineous Saudi family with typical features of VDEGS. Two sibli...

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Detalhes bibliográficos
Publicado no:BMC Med Genet
Main Authors: Al-Qattan, Mohammad M., Andejani, Doaa F., Sakati, Nadia A., Ramzan, Khushnooda, Imtiaz, Faiqa
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2018
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5789735/
https://ncbi.nlm.nih.gov/pubmed/29378527
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-018-0531-y
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