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Article

Achondroplasia-hypochondroplasia complex and abnormal pulmonary anatomy.

American journal of medical genetics. Part A - 1 Sept 2012

Bober Michael B, Taylor Megan, Heinle Robert, Mackenzie William

Abstract excerpt

Achondroplasia and hypochondroplasia are two of the most common forms of skeletal dysplasia. They are both caused by activating mutations in FGFR3 and are inherited in an autosomal dominant manner. Our patient was born to parents with presumed achondroplasia, and found on prenatal testing to have...

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Share to Achondroplasia
Share to FGFR3 gene
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Receptor, Fibroblast Growth Factor, Type 3

Source

Identifiers

PMID: 22888019
DOI: 10.1002/ajmg.a.35530

Genes

FGFR3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22888019-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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