Deep Phenotyping and Genetic Characterization of a Cohort of 70 Individuals With 5p Minus Syndrome
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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… read more here.
Keywords: cohort; deep phenotyping; phenotyping genetic; minus syndrome ... See more keywords