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Article

PAX7 mutation in a syndrome of failure to thrive, hypotonia, and global neurodevelopmental delay.

Human mutation - 1 Dec 2017

Proskorovski-Ohayon Regina, Kadir Rotem, Michalowski Analia, Flusser Hagit, Perez Yonatan, Hershkovitz Eli, Sivan Sara, Birk Ohad S

Abstract excerpt

PAX7 encodes a transcription factor essential in neural crest formation, myogenesis, and pituitary lineage specification. Pax7 null mice fail to thrive and exhibit muscle weakness, dying within 3 weeks. We describe a human autosomal-recessive syndrome, with failure to thrive, severe global developmental delay, microcephaly, axial hypotonia, pyramidal signs, dystonic postures, seizures, irritability, and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28779497
DOI: 10.1002/humu.23310

Genes

PAX7

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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