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'. Unlike the PWS,...

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Detalhes bibliográficos

Publicado no:	J Med Genet
Principais autores:	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
Formato:	Artigo
Idioma:	Inglês
Publicado em:	BMJ Publishing Group 1993
Assuntos:	Research Article
Acesso em linha:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1016534/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/8411072/ https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.30.9.761
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