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. 2024 Apr 21;13(8):2423. doi: 10.3390/jcm13082423
CdLS Cornelia de Lange syndrome
FGR fetal growth restriction
PEG-PEJ percutaneous endoscopic gastrostomy–jejunostomy
GERD gastroesophageal reflux
VSD ventricular septal defect
aCGH array comparative genomic hybridization
NGS next-generation sequencing
MLPA multiplex ligation-dependent probe amplification
WES whole-exome sequencing
WGS whole-genome sequencing
TFU transfontanelle ultrasound
TMJ temporomandibular joint
TTE transthoracic echocardiography
PEG percutaneous endoscopic gastrostomy
SIB self-injurious behavior
ADHD attention deficit hyperactivity disorder
PACU post-anesthesia care unit
CNV copy number variation
SNPs single nucleotide polymorphisms
CPs chromatinopathies