Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Karen Van Driessche"'
Publikováno v:
Journal of pediatric endocrinology and metabolism
The loss of an X chromosome results in short stature and often in primary ovarian failure, but the effect of extra X chromosomes is less clear, especially in 48,XXXX women. We report a girl with a 48,XXXX karyotype with tall stature (181.8 cm), prima
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7350317da5966e30fd19e603c38af868
https://pubmed.ncbi.nlm.nih.gov/12199336
https://pubmed.ncbi.nlm.nih.gov/12199336
Autor:
Karen Van Driessche, A. Karpushova, Christian Drouet, Konrad Bork, Wim J. Stevens, Roberto Colombo, Thomas Renné, Markus M. Nöthen, Hans Christian Hennies, Sven Cichon, Felicitas Müller, Ludovic Martin
Publikováno v:
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2006, 79 (6), pp.1098-104. ⟨10.1086/509899⟩
The American journal of human genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2006, 79 (6), pp.1098-104. ⟨10.1086/509899⟩
The American journal of human genetics
International audience; Hereditary angioedema (HAE) is characterized clinically by recurrent acute skin swelling, abdominal pain, and potentially life-threatening laryngeal edema. Three forms of HAE have been described. The classic forms, HAE types I
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a42a8753e63671c656b32cd171dba55c