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Prader-Willi syndrome and atypical submicroscopic 15q11-q13 deletions with or without imprinting defects

We report a 20 year follow up on a Caucasian female, now 26 years of age, with Prader-Willi syndrome (PWS) harboring an atypical 15q11-q13 submicroscopic deletion of 100–200 kb in size first detected in 1996 involving the imprinting center, SNRPN gene and surrounding region. PWS is a rare complex di...

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Detaylı Bibliyografya
Yayımlandı:Eur J Med Genet
Asıl Yazarlar: Hassan, Maaz, Butler, Merlin G.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2016
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC6688621/
https://ncbi.nlm.nih.gov/pubmed/27659713
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ejmg.2016.09.017
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