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Early Detection and Management of Prader-Willi Syndrome in Egyptian Patients

Prader-Willi syndrome (PWS) is a distinct neurodevelopmental disorder associated with the deletion within the chromosomal 15q11-q13 region or uniparental disomy of chromosome 15. The etiologic heterogeneity of PWS makes it very difficult to establish uniform diagnostic methods which would result in...

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Publicat a:J Pediatr Genet
Autors principals: El-Bassyouni, Hala T., Hassan, Nagwa, Mahfouz, Inas, Abd-Elnaby, Azza E., Mostafa, Mostafa I., Tosson, Angie M.S.
Format: Artigo
Idioma:Inglês
Publicat: Georg Thieme Verlag KG 2019
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6824901/
https://ncbi.nlm.nih.gov/pubmed/31687254
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0039-1695042
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