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Article

A clinical and molecular analysis of a patient with Emanuel syndrome.

Molecular medicine reports - 1 Mar 2017

Luo Jin-Wen, Yang Huan, Tan Zhi-Ping, Tu Ming, Luo Hong, Yang Yi-Feng, Xie Li

Abstract excerpt

Emanuel syndrome (ES) is the most frequent type of recurrent non‑Robertsonian translocation that is characterized by numerous anomalies. Over 100 patients with ES have been described in the literature. The phenotype of this syndrome varies but often consists of facial dysmorphism, microcephaly, severe intellectual disability, developmental retardation, congenital heart disease and genital anomalies. The present...

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Identifiers

PMID: 28075445
DOI: 10.3892/mmr.2017.6107

Provenance

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