Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Anna L. Burgemeister"'
Autor:
Korbinian M Riedhammer, Anna L Burgemeister, Vincent Cantagrel, Jeanne Amiel, Karine Siquier-Pernet, Nathalie Boddaert, Jozef Hertecant, Patricia L Kannouche, Caroline Pouvelle, Stephanie Htun, Anne M Slavotinek, Christian Beetz, Dan Diego-Alvarez, Kapil Kampe, Nicole Fleischer, Zain Awamleh, Rosanna Weksberg, Robert Kopajtich, Thomas Meitinger, Jehan Suleiman, Ayman W El-Hattab
Publikováno v:
Hum Mol Genet
Hum. Mol. Genet. 31, 3083-3094 (2022)
Hum. Mol. Genet. 31, 3083-3094 (2022)
Background: TASP1 encodes an endopeptidase activating histone methyltransferases of the KMT2 family. Homozygous loss-of-function variants in TASP1 have recently been associated with Suleiman-El-Hattab syndrome. We report six individuals with Suleiman
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d82b1a14904cdc0173758c0e7464c36e
https://pubmed.ncbi.nlm.nih.gov/35512351
https://pubmed.ncbi.nlm.nih.gov/35512351
Autor:
Korbinian M. Riedhammer, Ayman W. El-Hattab, Fowzan S. Alkuraya, Hessa S. Alsaif, Mirjana Gusic, Timothy Jicinsky, Maha Abdulrahim, Moeenaldeen Al-Sayed, Jehan Suleiman, Weimin Bi, Manal Nicolas-Jilwan, Nabil Moghrabi, Laurie Werner, Srirangan Sampath, Anna L. Burgemeister, Melinda Mundt
Publikováno v:
Hum. Mutat. 40, 1985-1992 (2019)
We report four unrelated children with homozygous loss-of-function variants in TASP1 and an overlapping phenotype comprising developmental delay with hypotonia and microcephaly, feeding difficulties with failure-to-thrive, recurrent respiratory infec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4d2079d27f4f4ebe27c3ad9c72182f9
https://pubmed.ncbi.nlm.nih.gov/31209944
https://pubmed.ncbi.nlm.nih.gov/31209944