Double Xp11.22 deletion including SHROOM4 and CLCN5 associated with severe psychomotor retardation and Dent disease

BACKGROUND: Here we report the clinical and molecular characterization of two Xp11.22 deletions including SHROOM4 and CLCN5 genes. These deletions appeared in the same X chromosome of the same patient. RESULTS: The patient is a six-year-old boy who presented hydrocephalus, severe psychomotor and gro...

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Bibliografski detalji
Izdano u:Mol Cytogenet
Glavni autori: Armanet, Narjes, Metay, Corinne, Brisset, Sophie, Deschenes, Georges, Pineau, Dominique, Petit, François M, Di Rocco, Federico, Goossens, Michel, Tachdjian, Gérard, Labrune, Philippe, Tosca, Lucie
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2015
Teme:
Case Report
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4322561/
https://ncbi.nlm.nih.gov/pubmed/25670966
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-015-0107-x
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