Evidence map›Paper›PMID 42876636›Full record

ArticleFrontiers in cell and developmental biology2026

Expanding the clinical and molecular spectrum of Schaaf-Yang syndrome in China: evidence for a severe phenotypic subgroup associated with

Xue-Fei Chen, Shu-Jiong Mao, Sheng Zhong, Shanshan Shen, Xue-Yong Lou, Chao-Chun Zou, Tao Ling

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Article in Frontiers in cell and developmental biology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

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Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

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5 · Who and what money

Authors and funding

7 authors.

Xue-Fei ChenDepartment of Endocrinology and Metabolism, Jinhua Municipal Central Hospital, Jinhua, China.
Shu-Jiong MaoChildren's Hospital, Zhejiang University School of Medicine, Hangzhou, China.
Sheng ZhongDepartment of Gynecology, Jinhua Maternity and Child Health Care Hospital, Jinhua, China.
Shanshan ShenDepartment of Endocrinology and Metabolism, Jinhua Municipal Central Hospital, Jinhua, China.
Xue-Yong LouDepartment of Endocrinology and Metabolism, Jinhua Municipal Central Hospital, Jinhua, China.
Chao-Chun ZouDepartment of Endocrinology, The Children's Hospital of Zhejiang University School of Medicine, National Clinical Research Center for Children and Adolescents' Health and Diseases, Hangzhou, China.
Tao LingDepartment of Gastroenterology, Jinhua Municipal Central Hospital, Jinhua, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Schaaf-Yang syndrome (SYS) is a rare imprinting-related neurodevelopmental disorder caused by pathogenic variants in the Methods: We conducted a retrospective questionnaire-based case series to delineate the clinical and molecular characteristics of Chinese individuals with MAGEL2-related disorders among evaluable individuals. Results: We present 28 individuals harboring Discussion: This study provides the first systematic characterization of Chinese patients with SYS and expands the clinical and molecular spectrum of MAGEL2-related disease. Our findings identify early respiratory dysfunction as a major determinant of disease severity and suggest that truncating variants affecting the

Indexed as

imprinting inheritanceMAGEL2respiratory dysfunctionSchaaf-Yang syndrometruncating variants

Identifiers

PMID42876636
PMCPMC13661550

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.