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Prader-Willi Syndrome: Current Understanding of Cause and Diagnosis

Prader-Willi syndrome (PWS) is characterized by hypotonia, obesity, hypogonadism, short stature, small hands and feet, mental deficiency, a characteristic face, and an interstitial deletion of the proximal long arm of chromosome 15 in about one-half of the patients. The incidence is estimated to be...

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Sonraí Bibleagrafaíochta
Foilsithe in:Am J Med Genet
Príomhúdar: Butler, Merlin G.
Formáid: Artigo
Teanga:Inglês
Foilsithe: 1990
Ábhair:
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5493042/
https://ncbi.nlm.nih.gov/pubmed/2309779
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.1320350306
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