Phenotype of two Polish patients with Schaaf–Yang syndrome confirmed by identifying mutation in MAGEL2 gene-Reference-Cited by-同舟云学术

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

Published:2018-04 Issue:2 Volume:27 Page:49-52
ISSN:0962-8827
Container-title:Clinical Dysmorphology
language:en
Short-container-title:

Author:

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

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Genetics (clinical),General Medicine,Pathology and Forensic Medicine,Anatomy,Pediatrics, Perinatology and Child Health

Reference7 articles.

1. The Human Magel2 Gene and Its Mouse Homologue Are Paternally Expressed and Mapped to the Prader-Willi Region

2. Diagnoses and characteristics of autism spectrum disorders in children with Prader-Willi syndrome;Dykens;J Neurodev Disord,2017

3. The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families;Fountain;Genet Med,2017

4. Truncating mutations of MAGEL2, a gene within the Prader–Willi locus, are responsible for severe arthrogryposis;Mejlachowicz;AmJ Hum Genet,2015

5. Truncating mutations of MAGEL2 cause Prader–Willi phenotypes and autism;Schaaf;Nat Genet,2013

Cited by 13 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Preimplantation Genetic Testing (PGT) and Prenatal Diagnosis of Schaaf-Yang Syndrome: A Report of Three Families and a Research on Genotype–Phenotype Correlations;Journal of Clinical Medicine;2023-02-20

2. Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2;Journal of Medical Genetics;2022-09-07

3. A Korean Child with Schaaf-Yang Syndrome Presented with Hearing Impairment: A Case Report;Neonatal Medicine;2022-08-31

4. Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2;2022-05-07

5. The N-terminal domain of the Schaaf–Yang syndrome protein MAGEL2 likely has a role in RNA metabolism;Journal of Biological Chemistry;2021-08