9q21.13q21.31 deletion in a patient with intellectual disability severe speech delay and and dysmorphic features a newly recognized microdeletion syndrome

The increased use of chromosomal microarray analysis has led to the identification of new microdeletion/microduplication syndromes, enabling better genotype-phenotype correlations. Interstitial deletions involving the long arm of chromosome 9 are rare but recently a microdeletion syndrome at 9q21.13...

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Bibliographic Details
Main Author: Marques, Barbara (author)
Other Authors: Serafim, Silvia (author), Pedro, Sonia (author), Tarelho, Ana Rita (author), Ferreira, Cristina (author), Gonçalves, Rui (author), Correia, Hildeberto (author)
Format: conferenceObject
Language:eng
Published: 2020
Subjects:
Online Access:http://hdl.handle.net/10400.18/6718
Country:Portugal
Oai:oai:repositorio.insa.pt:10400.18/6718