Rare CNVs provide novel insights into the molecular basis of GH and IGF-1 insensitivity

OBJECTIVE: Copy number variation (CNV) has been associated with idiopathic short stature, small for gestational age and Silver-Russell syndrome (SRS). It has not been extensively investigated in growth hormone insensitivity (GHI; short stature, IGF-1 deficiency and normal/high GH) or previously in I...

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Detalles Bibliográficos
Autores principales: Cottrell, Emily, Cabrera, Claudia P, Ishida, Miho, Chatterjee, Sumana, Greening, James, Wright, Neil, Bossowski, Artur, Dunkel, Leo, Deeb, Asma, Basiri, Iman Al, Rose, Stephen J, Mason, Avril, Bint, Susan, Ahn, Joo Wook, Hwa, Vivian, Metherell, Louise A, Moore, Gudrun E, Storr, Helen L
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2020
Materias:
Clinical Study
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7592635/
https://www.ncbi.nlm.nih.gov/pubmed/33055295
http://dx.doi.org/10.1530/EJE-20-0474

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