Genetic Manifestations and Phenotype Spectrum in Infants With Feeding Difficulty

• Published in: Molecular genetics & genomic medicine Vol. 12; no. 8; pp. e70001 - n/a
• Main Authors: Han, Mingyu, Shi, Wei, Chen, Xiangxiang, Wu, Dingwen, Sun, Yi, Wang, Weiyan, Zhan, Canyang, Hu, Lingling, Yuan, Tianming
• Format: Journal Article
• Language: English
• Published: United States John Wiley & Sons, Inc 01.08.2024; John Wiley and Sons Inc; Wiley
• Subjects: Abnormalities; Abnormalities, Multiple - genetics; Abnormalities, Multiple - pathology; Birth weight; Cesarean section; Children & youth; clinical manifestations; Congenital diseases; Disease; Electroencephalography; Exome Sequencing; Fatalities; Feeding; feeding difficulty; Female; Gas discharge tubes; Gene sequencing; Genetic disorders; Genetic diversity; Genetic variance; Genomes; Genotype & phenotype; Gestational age; Hospitals; Humans; Infant; Infant, Newborn; Infants; Male; multiple malformation; Neonates; Newborn babies; Original; Ostomy; Patients; Pediatrics; Phenotype; Phenotypes; Premature babies; Rare diseases; rare genetic disease; Swallowing; Whole genome sequencing; whole‐exome sequencing (WES); United States > US; feeding difficulty; rare genetic disease; multiple malformation; clinical manifestations; whole‐exome sequencing (WES)

ABSTRACT Background Feeding difficulties frequently co‐occur with multisystem disorders attributed to rare genetic diseases. In this study, we aimed to describe the genetic manifestations and phenotype spectrum in infants experiencing feeding difficulties. Methods This case series included infants u...