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Article

Further delineation of achondroplasia-hypochondroplasia complex with long-term survival.

American journal of medical genetics. Part A - 1 May 2018

González-Del Angel Ariadna, Rius Rocío, Alcántara-Ortigoza Miguel A, Spector Elaine, Del Castillo Victoria, Mata-García Luis Enrique

Abstract excerpt

Achondroplasia-hypochondroplasia (ACH-HCH) complex is caused by the presence of two different pathogenic variants in each allele of FGFR3 gene. Only four patients with confirmed molecular diagnoses have been reported to date, and the phenotype has not been fully defined. Here, we describe a Mexican patient with a confirmed molecular diagnosis of ACH-HCH complex. This patient exhibits intellectual disability, has...

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Source

Identifiers

PMID: 29681095
DOI: 10.1002/ajmg.a.38660

Genes

FGFR3

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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