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Article

Double heterozygosity in bone growth disorders: four new observations and review.

American journal of medical genetics. Part A - 1 Sept 2003

Flynn Maureen A, Pauli Richard M

Abstract excerpt

Because matings between individuals of small stature is common, information regarding double heterozygosity for dominantly inherited bone growth disorders is of considerable importance. We summarize seven occurrences of four combinations of double heterozygosity (achondroplasia/spondyloepiphyseal dysplasia congenita, achondroplasia/pseudoachondroplasia, achondroplasia/osteogenesis imperfecta type I,...

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Source

Identifiers

PMID: 12923858
DOI: 10.1002/ajmg.a.20143

Genes

FGFR3

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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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