Cargando…
Novel Mutations in FGFR1 Causing Idiopathic Hypogonadotropic Hypogonadism: A Cohort Study in Eastern Indian Population
Introduction: IHH is a clinically and genetically heterogeneous condition with more than 80 different mutations described in literature, some of the important being KAL-1 (anosmin), fibroblast growth factor receptor-1 (FGFR1) and fibroblast growth factor-8 (FGF8). Objective: To characterize the clin...
Autores principales: | Baidya, Arjun, Datta, Saptarshi, Mukhopadhyay, Satinath, Roy, Sib Shankar |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2021
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8090713/ http://dx.doi.org/10.1210/jendso/bvab048.1038 |
Ejemplares similares
-
SUN-LB006 Skeletal Muscle Krüppel-Like Factor 15 and PPARd Cooperate to Regulate Skeletal Muscle Lipid Metabolism
por: Fan, Liyan, et al.
Publicado: (2019) -
SUN-034 Genetic Diagnosis of Congenital Isolated or Combined Growth Hormone Deficiency by Massive Parallel Sequencing Using a Target Gene Panel
por: NAKAGUMA, MARILENA, et al.
Publicado: (2019) -
OR15-2 A Novel Upstream Enhancer Acts Synergistically with GnRH and Activin to Increase FSHβ Transcription
por: Bohaczuk, Stephanie, et al.
Publicado: (2019) -
OR15-5 Human Sex Determination at the Edge of Ambiguity: Impaired SRY Phosphorylation Attenuates Expression of the Male Program
por: Chen, Yen-Shan, et al.
Publicado: (2019) -
OR15-4 Long-Term Follow-Up of a Female with a Mutation in the Estrogen Receptor Alpha (ESR1) Gene
por: Brakta, Soumia, et al.
Publicado: (2019)