Diagnosis of Chromosome 15q-Terminal Deletion Syndrome through Elevated Fasting Serum Growth Hormone Levels

Diagnosis of Chromosome 15q-Terminal Deletion Syndrome through Elevated Fasting Serum Growth Hormone Levels

Chromosome 15q26-qter deletion syndrome is a rare disease that causes prenatal and postnatal growth retardation, microcephaly, developmental delay, and congenital heart diseases, mainly due to haploinsufficiency of <i>IGF1R</i>. In addition, patients with pathogenic variants of the <i...

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Bibliographic Details
Main Authors: Masato Ono, Masato Tanaka, Shota Hiroshima, Kentaro Sawano, Yohei Ogawa, Keisuke Nagasaki, Akihiko Saitoh
Format: Article
Language:English
Published: MDPI AG 2022-02-01
Series:Endocrines
Subjects:
growth retardation
small-for-gestational age
congenital heart disease
growth hormone
IGF-1
<i>IGF1R</i>
Online Access:https://www.mdpi.com/2673-396X/3/1/8

Internet

https://www.mdpi.com/2673-396X/3/1/8

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