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A study on genotypes and phenotypes of short stature caused by epigenetic modification gene variants.

European journal of pediatrics - 1 Mar 2024

Shangguan Huakun, Wang Jian, Lin Jinduan, Huang Xiaozhen, Zeng Yan, Chen Ruimin

Abstract excerpt

Mendelian disorders of the epigenetic machinery (MDEMs) are caused by genetic mutations, a considerable fraction of which are associated with epigenetic modification. These MDEMs exhibit phenotypic overlap broadly characterized by multiorgan abnormalities. The variant detected in genes associated with epigenetic modification can lead to short stature accompanied with multiple system abnormalities. This study is...

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PMID: 38170291
DOI: 10.1007/s00431-023-05385-3

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