Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Catherine Gbekie"'
Publikováno v:
Women's Health Reports, Vol 2, Iss 1, Pp 500-506 (2021)
Purpose: Fragile X Syndrome (FXS) is caused by a full mutation in the FMR1 gene, defined by >200 CGG repeats. It is the leading cause of inherited intellectual disability, but presents with a wide range of clinical variability in males and particular
Externí odkaz:
https://doaj.org/article/a62e43d9b4d545fbb1c520df8fa8dde3
Autor:
Reymundo Lozano, Catherine Gbekie, Paige M. Siper, Shubhika Srivastava, Jeffrey M. Saland, Swathi Sethuram, Lara Tang, Elodie Drapeau, Yitzchak Frank, Joseph D. Buxbaum, Alexander Kolevzon
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 13, Iss 1, Pp 1-18 (2021)
Abstract FOXP1 syndrome is a neurodevelopmental disorder caused by mutations or deletions that disrupt the forkhead box protein 1 (FOXP1) gene, which encodes a transcription factor important for the early development of many organ systems, including
Externí odkaz:
https://doaj.org/article/4152d15d2b82461788917e39deb9a5c4
Publikováno v:
Women's Health Reports
Purpose: Fragile X Syndrome (FXS) is caused by a full mutation in the FMR1 gene, defined by >200 CGG repeats. It is the leading cause of inherited intellectual disability, but presents with a wide range of clinical variability in males and particular
Autor:
Paige M. Siper, Reymundo Lozano, Swathi Sethuram, Jeffrey M. Saland, Shubhika Srivastava, Elodie Drapeau, Alexander Kolevzon, Yitzchak Frank, Joseph D. Buxbaum, Lara Tang, Catherine Gbekie
Publikováno v:
Journal of Neurodevelopmental Disorders
Journal of Neurodevelopmental Disorders, Vol 13, Iss 1, Pp 1-18 (2021)
Journal of Neurodevelopmental Disorders, Vol 13, Iss 1, Pp 1-18 (2021)
FOXP1 syndrome is a neurodevelopmental disorder caused by mutations or deletions that disrupt the forkhead box protein 1 (FOXP1) gene, which encodes a transcription factor important for the early development of many organ systems, including the brain