6q16.3q23.3 duplication associated with Prader-Willi-like syndrome

BACKGROUND: Prader-Willi syndrome (PWS) is characterized by hypotonia, delayed neuropsychomotor development, overeating, obesity and mental deficiency. This phenotype is encountered in other conditions, defining Prader-Willi-like syndrome (PWLS). CASE PRESENTATION: We report a 14-year-old boy with a...

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Podrobná bibliografie
Vydáno v:Mol Cytogenet
Hlavní autoři: Desch, Laurent, Marle, Nathalie, Mosca-Boidron, Anne-Laure, Faivre, Laurence, Eliade, Marie, Payet, Muriel, Ragon, Clemence, Thevenon, Julien, Aral, Bernard, Ragot, Sylviane, Ardalan, Azarnouche, Dhouibi, Nabila, Bensignor, Candace, Thauvin-Robinet, Christel, El Chehadeh, Salima, Callier, Patrick
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2015
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4479069/
https://ncbi.nlm.nih.gov/pubmed/26110021
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-015-0151-6
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