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Published in 2021 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2021.645595
Abstract: Chromosome-5p minus syndrome (5p-Sd, OMIM #123450) formerly known as Cri du Chat syndrome results from the loss of genetic material at the distal region of the short arm of chromosome 5. It is a neurodevelopmental…
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Keywords:
cohort;
deep phenotyping;
phenotyping genetic;
minus syndrome ... See more keywords