Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Allison J Kalinousky"'
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-11 (2024)
Abstract Background KAT6A (Arboleda-Tham) syndrome is a Mendelian disorder of the epigenetic machinery caused by pathogenic variants in the lysine acetyltransferase 6 A (KAT6A) gene. Intellectual disability and speech/language impairment (e.g., minim
Externí odkaz:
https://doaj.org/article/12b8a077478e43839a5a1007b81cf0fd
Autor:
Allison J. Kalinousky, Tyler Rapp, Hadia Hijazi, Jennifer Johnson, Hans Tomas Bjornsson, Jacqueline R. Harris
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Kabuki syndrome (KS) is a Mendelian Disorder of the Epigenetic Machinery (MDEM) caused by loss of function variants in either of two genes involved in the regulation of histone methylation, KMT2D (34–76%) or KDM6A (9–13%). Previously, representat
Externí odkaz:
https://doaj.org/article/f72da1e1062b4440a0637ec998db9fb1
Publikováno v:
American Journal of Medical Genetics Part A. 188:3041-3048
Kabuki syndrome (KS) is a rare epigenetic disorder caused by heterozygous loss of function variants in either KMT2D (90%) or KDM6A (10%), both involved in regulation of histone methylation. While sleep disturbance in other Mendelian disorders of the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de6e12878ea7738c688203166d7914b0
https://doi.org/10.1002/ajmg.a.62921
https://doi.org/10.1002/ajmg.a.62921