Characterisation of the clinical phenotype in Phelan-McDermid syndrome
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DOI: 10.1186/s11689-021-09370-5
Abstract: Background Phelan-McDermid syndrome (PMS) is a rare genetic disorder compromising the 22q13 terminal region and affecting SHANK3 , a gene crucial to the neurobehavioural phenotype and strongly linked to autism (ASD) and intellectual disability (ID).… read more here.
Keywords: phenotype; deletion size; mcdermid syndrome; phelan mcdermid ... See more keywords