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Phenotype of two Polish patients with Schaaf-Yang syndrome confirmed by identifying mutation in MAGEL2 gene.

作者信息

Matuszewska Karolina E, Badura-Stronka Magdalena, Śmigiel Robert, Cabała Magdalena, Biernacka Anna, Kosinska Joanna, Rydzanicz Malgorzata, Winczewska-Wiktor Anna, Sasiadek Maria, Latos-Bieleńska Anna, Żemojtel Tomasz, Płoski Rafal

机构信息

Department of Medical Genetics, Poznan University of Medical Sciences.

Centers for Medical Genetics GENESIS.

出版信息

Clin Dysmorphol. 2018 Apr;27(2):49-52. doi: 10.1097/MCD.0000000000000212.

DOI:10.1097/MCD.0000000000000212
PMID:29389715
Abstract
摘要

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