A novel heterozygous mutation of ANKRD11 causes KBG syndrome in a preterm neonate: a case report and literature review

A novel heterozygous mutation of ANKRD11 causes KBG syndrome in a preterm neonate: a case report and literature review

The KBG syndrome (KBGS) affects several systems caused by the mutation of the ANKRD11 gene. The main manifestations of KGBS included hearing loss, feeding difficulties, craniofacial abnormalities, tooth deformity, and developmental delay (delayed overall development, convulsions, and intellectual ab...

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Bibliographic Details
Main Authors: Jie Gao, Ruiqin Wang, Zhen Pan, Ruolan Hu, Mingyan Jiang, Jinrong Li
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-06-01
Series:Frontiers in Pediatrics
Subjects:
ANKRD11
congenital chylothorax
KBG syndrome
premature
heterozygous mutation
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2025.1565261/full
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