Refining the Clinical Spectrum of the 17p13.3 Microduplication Syndrome: Case-Report of a Familial Small Microduplication-MedSci.cn

Refining the Clinical Spectrum of the 17p13.3 Microduplication Syndrome: Case-Report of a Familial Small Microduplication

Da Silva, JD; Gonzaga, D; Barreta, A; Correia, H; Fortuna, AM; Soares, AR; Tkachenko, N

Da Silva, JD (通讯作者)，Ctr Hosp Univ Porto, Ctr Genet Med Doutor Jacinto Magalhaes CGM, P-4050106 Porto, Portugal.;Da Silva, JD (通讯作者)，Univ Minho, Life & Hlth Sci Res Inst ICVS, Sch Med, P-4710057 Braga, Portugal.;Da Silva, JD (通讯作者)，ICVS 3Bs, PT Govt Associate Lab, P-4806909 Braga, Portugal.

Abstract

The chromosomal region 17p13.3 contains extensive repetitive sequences and is a well-recognized region of genomic instability. The 17p13.3 microduplic......

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Refining the Clinical Spectrum of the 17p13.3 Microduplication Syndrome: Case-Report of a Familial Small Microduplication

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