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SHOX Deletion and Idiopathic Short Stature: What Does the Clinician Need to Know? Case Series Report

Children diagnosticated with idiopathic short stature (ISS) are probably, in most cases, underdiagnosticated. The genetic causes of ISS may be mutations of genes involved in local regulation of the growth plate or genes involved in the GH-IGF1 axis physiology. We present a kindred of five children e...

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Detalles Bibliográficos
Autores principales: Ungureanu, Maria-Christina, Hrisca, Anamaria, Caba, Lavinia, Teodoriu, Laura, Bilha, Stefana, Preda, Cristina, Leustean, Letitia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9818503/
https://www.ncbi.nlm.nih.gov/pubmed/36611397
http://dx.doi.org/10.3390/diagnostics13010105