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Article

Three patients with Schaaf-Yang syndrome exhibiting arthrogryposis and endocrinological abnormalities.

American journal of medical genetics. Part A - 1 Mar 2018

Enya Takuji, Okamoto Nobuhiko, Iba Yoshinori, Miyazawa Tomoki, Okada Mitsuru, Ida Shinobu, Naruto Takuya, Imoto Issei, Fujita Atsushi, Miyake Noriko, Matsumoto Naomichi, Sugimoto Keisuke, Takemura Tsukasa

Abstract excerpt

MAGEL2 is the paternally expressed gene within Prader-Willi syndrome critical region at 15q11.2. We encountered three individuals in whom truncating mutations of MAGEL2 were identified. Patients 1 and 2, siblings born to healthy, non-consanguineous Japanese parents, showed generalized hypotonia, lethargy, severe respiratory difficulty, poor feeding, and multiple anomalies including arthrogryposis soon after...

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Identifiers

PMID: 29359444
DOI: 10.1002/ajmg.a.38606

Genes

MAGEL2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Three patients with Schaaf-Yang syndrome exhibiting arthrogryposis and endocrinological abnormalities.PMID 29359444Read ↗

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The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families.Semantic proximity Read ↗

Schaaf‐Yang syndrome overview: Report of 78 individualsSemantic proximity Read ↗

Phenotypic spectrum and mechanism analysis of Schaff Yang syndrome: A case report on new mutation of MAGEL2 gene.Semantic proximity Read ↗

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MAGEL2 (patho-)physiology and Schaaf-Yang syndrome.Semantic proximity Read ↗

Muscle dysfunction caused by loss of<i>Magel2</i>in a mouse model of Prader-Willi and Schaaf-Yang syndromesSemantic proximity Read ↗

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