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Article

Molecularly proven mosaicism in phenotypically normal parent of a girl with Freeman-Sheldon Syndrome caused by a pathogenic MYH3 mutation.

American journal of medical genetics. Part A - 1 Jun 2016

Hague Jennifer, Delon Isabelle, Brugger Kim, Martin Howard, Abbs Stephen, Park Soo-Mi

Abstract excerpt

We report a case of a female child who has classical Freeman-Sheldon syndrome (FSS) associated with a previously reported recurrent pathogenic heterozygous missense mutation, c.2015G > A, p. (Arg672His), in MYH3 where the phenotypically normal mother is a molecularly confirmed mosaic. To the best of our knowledge, this is the first report in the medical literature of molecularly confirmed parental mosaicism for a...

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Source

Identifiers

PMID: 26996280
DOI: 10.1002/ajmg.a.37631

Genes

MYH3

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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