@Article{Silva2024,
journal="Pediatria Polska - Polish Journal of Paediatrics",
issn="0031-3939",
volume="99",
number="2",
year="2024",
title="MYT1L mutation in a patient with severe early-onset obesity and intellectual disability",
abstract="Children suffering from intellectual disability, dysmorphic features and organ-specific developmental abnormalities should undergo genetic testing. Entities such as X fragile syndrome should be investigated. If we add obesity to the “equation”, Prader-Willi and Bardet-Biedl are thus far the most common syndromic conditions to be found. The evolution of genetic testing brought several other genetic determinants of developmental delay. We report on a 4-year-old girl presenting with obesity and delayed neurological, cognitive and motor development whose genetic testing by array-based comparative genomic hybridization exposed a partial deletion at chromosome 2p25.3, containing the gene MYT1L.",
author="Silva, André Costa e
and Maio, Inês
and Martins, Cecília
and Pires, Sara
and Gonçalves, Cláudia",
pages="164--166",
doi="10.5114/polp.2024.140752",
url="http://dx.doi.org/10.5114/polp.2024.140752"
}