Growth Hormone Receptor (GHR) 6Ω Pseudoexon Activation: A Novel Cause of Severe Growth Hormone Insensitivity

CONTEXT: Severe forms of growth hormone insensitivity (GHI) are characterized by extreme short stature, dysmorphism, and metabolic anomalies. OBJECTIVE: This work aims to identify the genetic cause of growth failure in 3 “classical” GHI individuals. METHODS: A novel intronic growth hormone receptor...

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Detalles Bibliográficos
Autores principales: Cottrell, Emily, Maharaj, Avinaash, Williams, Jack, Chatterjee, Sumana, Cirillo, Grazia, Miraglia del Giudice, Emanuele, Festa, Adalgisa, Palumbo, Stefania, Capalbo, Donatella, Salerno, Mariacarolina, Pignata, Claudio, Savage, Martin O, Schilbach, Katharina, Bidlingmaier, Martin, Hwa, Vivian, Metherell, Louise A, Grandone, Anna, Storr, Helen L
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
Online Only Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8684449/
http://dx.doi.org/10.1210/clinem/dgab550

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8684449/
http://dx.doi.org/10.1210/clinem/dgab550

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