Metabolic profiling of organic acids in urine samples of Cri Du Chat syndrome individuals by gas chromatography-mass spectrometry
BR Araújo, DZS Furtado, FBV de Moura Leite… - … of Chromatography B, 2020 - Elsevier
Abstract Cri Du Chat (CDC) syndrome is a rare genetic condition caused by the deletion of
genetic material on the small arm (the p arm) of chromosome 5. A high-pitched cry that …
genetic material on the small arm (the p arm) of chromosome 5. A high-pitched cry that …
Targeted analysis reveals alteration in pathway in 5p minus individuals
DZS Furtado, FBVM Leite, LDL Jedlicka… - Biomedical …, 2020 - Wiley Online Library
Cri du Chat or 5p minus (5p−) syndrome is characterized by a deletion located on the
chromosome 5 short (− p) arm and has an incidence rate of 1 in 50,000 individuals …
chromosome 5 short (− p) arm and has an incidence rate of 1 in 50,000 individuals …