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Natural history of 39 patients with Achondroplasia

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.
Clinics; 73 (), 2018
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...
Acondroplasia/diagnóstico, Acondroplasia/genética, Acondroplasia/patología, Factores de Edad, Estudios de Seguimiento, Técnicas de Diagnóstico Molecular, Mutación, Radiografía, Receptor Tipo 3 de Factor de Crecimiento de Fibroblastos/genética, Estudios Retrospectivos
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