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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Vydáno v:Eur J Endocrinol
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Bioscientifica Ltd 2020
Témata:
Clinical Study
On-line přístup: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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