Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Beth A. Conrad"'
Publikováno v:
American Journal of Medical Genetics. 78:123-126
We report on a girl with duplication of 6q22.32 → qter and microcephaly, frontal bossing, facial anomalies, and webbed neck. She has congenital heart disease, renal hypoplasia, and hearing loss along with severe developmental delay. Published repor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::998443d31a76c584f22e38dbb229ccdd
https://doi.org/10.1002/(sici)1096-8628(19980630)78:2<123::aid-ajmg5>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19980630)78:2<123::aid-ajmg5>3.0.co
Autor:
Rainer Lehtonen, Virpi Launonen, Ilmo Kellokumpu, K Neale, Heather Hampel, Ian Tomlinson, Reijo Salovaara, Malcolm G. Dunlop, Barbara A. Leggett, Robert Pilarski, Richard S. Houlston, J. Piris, Shirley Hodgson, Takeo Iwama, Micheala A. Aldred, Keisuke Kurose, Heikki Järvinen, Paul Rozen, David Markie, Beth A. Conrad, Walter F. Bodmer, Kelly Woodford-Richens, Lauri A. Aaltonen, Xiao-Ping Zhou, Robin K. S. Phillips, Charis Eng, Sanno Virta, Jukka-Pekka Mecklin, Jin Cheon Kim
Publikováno v:
University of Helsinki
Juvenile polyposis syndrome (JPS) is an inherited hamartomatous-polyposis syndrome with a risk for colon cancer. JPS is a clinical diagnosis by exclusion, and, before susceptibility genes were identified, JPS could easily be confused with other inher
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9eaf31b175e95a29824f8145225a5f2c
https://pubmed.ncbi.nlm.nih.gov/11536076
https://pubmed.ncbi.nlm.nih.gov/11536076
Autor:
James V. Higgins, Mary Ella M Pierpont, Michaelene Lopez, Beth A. Conrad, Gordon W. Dewald, Eric R. Christensen
Publikováno v:
Clinical genetics. 48(3)
Three children with deletions of the terminal portion of the long arm of chromosome 2 [del (2) (q37)] are described and their clinical findings compared to published cases of 2q terminal deletions. Common clinical findings include development delay,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ba1bb8c8ef7bf67b69c8697ae3aecfe
https://pubmed.ncbi.nlm.nih.gov/9184258
https://pubmed.ncbi.nlm.nih.gov/9184258