Zobrazeno 1 - 2
of 2
pro vyhledávání: '"M. E. M. Oude Luttikhuis"'
Publikováno v:
Journal of Medical Genetics. 33:873-876
Type E brachydactyly is a digital malformation which characteristically causes an asymmetrical shortening of one or more metacarpals or metatarsals or both. Although commonly seen as part of a syndrome, it can be inherited as an autosomal dominant ch
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac75d16e18bf33c679158c445ac46f9d
https://doi.org/10.1136/jmg.33.10.873
https://doi.org/10.1136/jmg.33.10.873
Autor:
Richard C. Trembath, M. E. M. Oude Luttikhuis, W D Fraser, Peter E. Clayton, Louise C. Wilson
Publikováno v:
Journal of Medical Genetics. 31:835-839
Heterozygous mutations of the Gs alpha gene leading to reduced Gs alpha activity have been identified in patients with Albright's hereditary osteodystrophy (AHO). However, AHO may be associated with hormone resistance (pseudohypoparathyroidism type I
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90da5df1657f8652b4566dc00598b96f
https://doi.org/10.1136/jmg.31.11.835
https://doi.org/10.1136/jmg.31.11.835