Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Jeffrey B. Karasik"'
Publikováno v:
American Journal of Medical Genetics. 56:215-218
We report on a new case of the Opitz "C" trigonocephaly syndrome. Our patient had agenesis of the corpus callosum, an anomaly seen only twice previously, and tetralogy of Fallot, described only once before. A review shows that a combination of conotr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::876bc2577f93707bc4d043377d3c3ff7
https://doi.org/10.1002/ajmg.1320560220
https://doi.org/10.1002/ajmg.1320560220
Publikováno v:
American Journal of Medical Genetics. 46:284-287
The cause of the Rubinstein-Taybi syndrome (RTS), a multiple congenital anomalies/mental retardation (MCA/MR) syndrome first described in 1963, remains obscure. Recently, a deletion of chromosomal material at 16p13.3 has been found in some patients w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ada95f0ca24bfecc5adb92817fb3ed59
https://doi.org/10.1002/ajmg.1320460309
https://doi.org/10.1002/ajmg.1320460309
Publikováno v:
The Journal of Pediatrics. 121:833
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c94703bd99aec85349a6e887098891c0
https://doi.org/10.1016/s0022-3476(05)81932-8
https://doi.org/10.1016/s0022-3476(05)81932-8
Autor:
Robert W. Marion, Jeffrey B. Karasik
Publikováno v:
American Journal of Medical Genetics. 42:853-853
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fc57e4d72b9523b5f5e5f3170711e819
https://doi.org/10.1002/ajmg.1320420623
https://doi.org/10.1002/ajmg.1320420623