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Article

Mandibulofacial dysostosis with microcephaly: An expansion of the phenotype via parental survey.

American journal of medical genetics. Part A - 1 Feb 2021

Abell Katherine, Hopkin Robert J, Bender Patricia L, Jackson Farrah, Smallwood Kelly, Sullivan Bonnie, Stottmann Rolf W, Saal Howard M, Weaver K Nicole

Abstract excerpt

Mandibulofacial dysostosis with microcephaly (MFDM) is due to haploinsufficiency of spliceosomal GTPase EFTUD2. Features include microcephaly, craniofacial dysmorphology, developmental disability, and other anomalies. We surveyed parents of individuals with MFDM to expand knowledge about health, development, and parental concerns. Participants included attendees of the inaugural MFDM family conference in June...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 33247512
DOI: 10.1002/ajmg.a.61977
PMCID: PMC8379904

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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