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Article

Paternal transmission of a FMR1 full mutation allele.

American journal of medical genetics. Part A - 1 Oct 2017

Alvarez-Mora Maria Isabel, Guitart Miriam, Rodriguez-Revenga Laia, Madrigal Irene, Gabau Elisabeth, Milà Montserrat

Abstract excerpt

Fragile X syndrome (FXS) is the most common form of inherited intellectual disability (ID) and autism. In most of cases, the molecular basis of this syndrome is a CGG repeat expansion in the 5' untranslated region of the FMR1 gene. It is inherited as an X linked dominant trait, with a reduced penetrance (80% for males and 30% for females). Full mutation (FM) expansion from premutated alleles (PM) is only acquired...

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Source

Identifiers

PMID: 28815939
DOI: 10.1002/ajmg.a.38384

Genes

FMR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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