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Homozygous N540K hypochondroplasia--first report: radiological and clinical features

M Laura Garcia De Rosa1, Virginia Fano, H Verónica Araoz

  • 1Servicio de Genética Médica, Hospital J.P. Garrahan, Buenos Aires, Argentina.

American Journal of Medical Genetics. Part A
|April 10, 2014
PubMed

Keywords:
achondroplasiahomozygosityhypochondroplasiaphenotypic overlap

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