Zobrazeno 1 - 2
of 2
pro vyhledávání: '"[No Value] Vanderburgt"'
Autor:
Jc Oosterwijk, [No Value] Vanderburgt, Ben C.J. Hamel, Corry M.R. Weemaes, Aj Vanessen, Ásgeir Haraldsson
Publikováno v:
American Journal of Medical Genetics. 41:371-380
We describe 7 cases of cartilage hair hypoplasia (CHH) with emphasis on the clinical and immunological aspects. The literature on CHH is reviewed and symptoms in 63 non-Amish cases are summarized. In this autosomal recessive disorder the immunodefici
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0112af602ee2e4ded0a1e2a0cfbfbf2
https://doi.org/10.1002/ajmg.1320410320
https://doi.org/10.1002/ajmg.1320410320
Autor:
T Vanessen, Peter Meinecke, Renata Rizzo, L Pfeiffer, J. J. P. Schrander, Nicole Philip, G Wilson, Alain Verloes, Constance T.R.M. Schrander-Stumpel, [No Value] Vanderburgt, Sigrid Tinschert, U Hillig, Rainer König, Gabriele Gillessen-Kaesbach, J. P. Fryns, Hubert Journel, E Latta, A Maatkievit
Publikováno v:
European Journal of Pediatrics, 153(6), 438-445. SPRINGER
The Kabuki (Niikawa-Kuroki) syndrome was reported in 1981 by Niikawa et al. [19] and Kuroki et al. [15] in a total of ten unrelated Japanese children with a characteristic array of multiple congenital anomalies and mental retardation. The syndrome is
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69c638a1425a8f6044e68871ca2d11f0
https://pubmed.ncbi.nlm.nih.gov/8088300
https://pubmed.ncbi.nlm.nih.gov/8088300