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Article

[Multiple congenital anomalies-hypotonia-seizures syndrome 1: case report and review of literature].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 Mar 2017

Xu Y F, Li N, Li G Q, Wang X M, Zhou Y F, Yin L, Wang J

Abstract excerpt

Objective: To analyze and summarize the clinical and molecular characteristics of the patients with multiple congenital anomalies- hypotonia-seizures syndrome 1 (MCAHS 1). Method: Clinical data and test results were collected from a patient who was diagnosed with confirmed genetic basis of MCAHS 1 in Shanghai Children's Medical Center since December 2015. The patient and his parents were examined by the next...

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Source

Identifiers

PMID: 28273706
DOI: 10.3760/cma.j.issn.0578-1310.2017.03.010

Genes

PIGN

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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