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Article

Natural history of 39 patients with Achondroplasia.

Clinics (Sao Paulo, Brazil) - 2 Jul 2018

Ceroni Jose Ricardo Magliocco, Soares Diogo Cordeiro de Queiroz, Testai Larissa de Cássia, Kawahira Rachel Sayuri Honjo, Yamamoto Guilherme Lopes, Sugayama Sofia Mizuho Miura, Oliveira Luiz Antonio Nunes de, Bertola Debora Romeo, Kim Chong Ae

Abstract excerpt

OBJECTIVES: To characterize the natural history of 39 achondroplastic patients diagnosed by clinical, radiological and molecular assessments. METHODS: Observational and retrospective study of 39 patients who were attended at a public tertiary level hospital between 1995 and 2016. RESULTS: Diagnosis was made prenatally in 11 patients, at birth in 9 patients and within the first year of life in 13 patients. The...

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Identifiers

PMID: 29972438
DOI: 10.6061/clinics/2018/e324
PMCID: PMC6005962

Genes

FGFR3

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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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