Mesomelic dysplasia, Kantaputra type: Clinical report, prenatal diagnosis, no evidence forSHOX deletion/mutation

Autor: J. J. P. Gille, Liliane C. D. Wijnaendts, J.A. van de Sluijs, M.L. Kwee, J. M. G. van Vugt

Publikováno v: Scopus-Elsevier
American Journal of Medical Genetics Part A, 128A(4), 404-9. Wiley-Liss Inc.
Kwee, M L, van de Sluijs, J A, van Vugt, J M G, Wijnaendts, L C D & Gille, J J P 2004, ' Mesomelic dysplasia, Kantaputra type : clinical report, prenatal diagnosis, no evidence for SHOX deletion/mutation ', American Journal of Medical Genetics Part A, vol. 128A, no. 4, pp. 404-9 . https://doi.org/10.1002/ajmg.a.30120

A grandmother, her three children, and three grandchildren had skeletal abnormalities consisting of a short stature, bilateral symmetrical very short, broad and bowed radii, very short and broad ulna, mildly short lower legs, short proximal end of fi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::063b8ec9b8ef99da61da735ad5968f01
https://doi.org/10.1002/ajmg.a.30120