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Clinical and molecular studies in fragile X patients with a Prader-Willi-like phenotype.

A special subphenotype of the fragile X syndrome is reported which is characterised by extreme obesity with a full, round face, small, broad hands/feet, and regional skin hyperpigmentation. It resembles the Prader-Willi syndrome (PWS) and might therefore be named 'Prader-Willi-like'. Unlik...

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Autors principals: de Vries, B B, Fryns, J P, Butler, M G, Canziani, F, Wesby-van Swaay, E, van Hemel, J O, Oostra, B A, Halley, D J, Niermeijer, M F
Format: Artigo
Idioma:Inglês
Publicat: 1993
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1016534/
https://ncbi.nlm.nih.gov/pubmed/8411072
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