Zobrazeno 1 - 3
of 3
pro vyhledávání: '"D. A. Van Tijn"'
Publikováno v:
Nederlands tijdschrift voor geneeskunde. 145(45)
In two neonate girls with vesicular skin lesions, incontinentia pigmenti (Bloch-Sulzberger syndrome) was diagnosed. This rare X-linked dominant ectodermal disease can cause abnormalities in several organ systems. Most prominent are the dermatological
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f05debb15708c4e9db6551ddc8a88a22
https://pubmed.ncbi.nlm.nih.gov/11727618
https://pubmed.ncbi.nlm.nih.gov/11727618
Autor:
R. C. M. Hennekam, W. C. G. Overweg-Plandsoen, D. A. Van Tijn, C. J. van Asperen, Marjon H. Cnossen
Publikováno v:
Journal of medical genetics, 35(4), 323-327. BMJ Publishing Group
The simultaneous occurrence of familial neurofibromatosis type 1 (NF1) and an overgrowth syndrome resembling Weaver syndrome was observed in two related cases (a mother and her son). NF1 was confirmed by molecular genetic analysis showing a large del
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c83792f647cc09f82b0bf2f7abba56fb
https://europepmc.org/articles/PMC1051283/
https://europepmc.org/articles/PMC1051283/
Publikováno v:
Journal of acquired immune deficiency syndromes. 2(3)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b8037a8be372c43e8fe09c34ae28dca7
https://pubmed.ncbi.nlm.nih.gov/2470894
https://pubmed.ncbi.nlm.nih.gov/2470894