First case report of Cohen syndrome in the Tunisian population caused by VPS13B mutations

BACKGROUND: Cohen syndrome is a rare autosomal recessive developmental disorder that comprises variable clinical features counting developmental delay, pigmentary retinopathy, myopia, acquired microcephaly, truncal obesity, joint hypermobility, friendly disposition and intermittent neutropenia. VPS1...

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Podrobná bibliografie
Vydáno v:BMC Med Genet
Hlavní autoři: Rejeb, Imen, Jilani, Houweyda, Elaribi, Yasmina, Hizem, Syrine, Hila, Lamia, Zillahrdt, Julia Lauer, Chelly, Jamel, Benjemaa, Lamia
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2017
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5693559/
https://ncbi.nlm.nih.gov/pubmed/29149870
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-017-0493-5
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