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Extremely Low Birth Weight Infant (Gestational Age of 29 Weeks) With Kabuki Syndrome Type I: Case Report and Literature Review.

Molecular genetics & genomic medicine - 1 Oct 2024

Li Qi, Zheng Yuzhu, Guo Xinyuan, Xue Jiang

Abstract excerpt

BACKGROUND: This paper aimed to investigate the clinical phenotype of Kabuki syndrome (KS) in premature infants. METHODS: This paper presents a case of an extremely low birth weight infant (gestational age 29 weeks) with KS1 caused by a variant in the KMT2D gene. The clinical, pathological, and differential diagnostic findings were comprehensively analyzed. A thorough literature review was also performed to...

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Identifiers

PMID: 39400990
DOI: 10.1002/mgg3.70025
PMCID: PMC11476741

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