Mosaic UPD(7q)mat in a patient with silver Russell syndrome

BACKGROUND: Silver-Russell syndrome (SRS) is one of the imprinting disorders characterized by prenatal and postnatal growth restriction, relative macrocephaly, body asymmetry and characteristic facial features. ~ 10% of SRS cases are known to be associated with maternal uniparental disomy of chromos...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Mol Cytogenet
Egile Nagusiak: Su, Jiasun, Wang, Jin, Fan, Xin, Fu, Chunyun, Zhang, ShuJie, Zhang, Yue, Qin, Zailong, Li, Hongdou, Luo, Jingsi, Li, Chuan, Jiang, Tingting, Shen, Yiping
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: BioMed Central 2017
Gaiak:
Case Report
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC5645907/
https://ncbi.nlm.nih.gov/pubmed/29075327
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-017-0337-1
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