Microduplication of 7q36.3 encompassing the SHH long-range regulator (ZRS) in a patient with triphalangeal thumb-polysyndactyly syndrome and congenital heart disease

Triphalangeal thumb-polysyndactyly syndrome (TPT-PS) is an autosomal dominant disorder with complete penetrance and a variable expression consisting of opposable triphalangeal thumbs, duplication of the distal thumb phalanx, pre-axial polydactyly and duplication of the big toes (hallux). The causati...

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Detaylı Bibliyografya
Yayımlandı:Mol Med Rep
Asıl Yazarlar: Liu, Zhenghua, Yin, Ni, Gong, Lianghui, Tan, Zhiping, Yin, Bangliang, Yang, Yifeng, Luo, Cheng
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: D.A. Spandidos 2017
Konular:
Articles
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC5364826/
https://ncbi.nlm.nih.gov/pubmed/28035386
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3892/mmr.2016.6092
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