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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Shranjeno v:
Bibliografske podrobnosti
izdano v:Eur J Endocrinol
Main Authors: 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
Format: Artigo
Jezik:Inglês
Izdano: Bioscientifica Ltd 2020
Teme:
Clinical Study
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC7592635/
https://ncbi.nlm.nih.gov/pubmed/33055295
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1530/EJE-20-0474
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