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Various phenotypes of short stature with heterozygous IGF-1 receptor (IGF1R) mutations

Type 1 insulin-like growth factor receptor (IGF1R) plays an important role in normal fetal and postnatal growth. Over 30 pathogenic variants of IGF1R have been identified in patients with short stature. Yet, 20 years after the first report, a variety of phenotypes remain poorly defined. We analyzed...

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Detalles Bibliográficos
Autores principales:	Kawashima-Sonoyama, Yuki, Hotsubo, Tomoyuki, Hamajima, Takashi, Hamajima, Naoki, Fujimoto, Masanobu, Namba, Noriyuki, Kanzaki, Susumu
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	The Japanese Society for Pediatric Endocrinology 2022
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8981046/ https://www.ncbi.nlm.nih.gov/pubmed/35431446 http://dx.doi.org/10.1297/cpe.2021-0064

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