A Novel 3q29 Deletion in Association With Developmental Delay and Heart Malformation—Case Report With Literature Review

3q29 deletion syndrome is a rare disorder, causing a complex phenotype. Clinical features are variable and relatively non-specific. Our report aims to present an atypical, de novo deletion in chromosome band 3q29 in a preschool boy, first child of healthy non-consanguineous parents, presenting a par...

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Detalhes bibliográficos
Publicado no:Front Pediatr
Main Authors: Chirita Emandi, Adela, Dobrescu, Andreea Iulia, Doros, Gabriela, Hyon, Capucine, Miclea, Diana, Popoiu, Calin, Puiu, Maria, Arghirescu, Smaranda
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2019
Assuntos:
Pediatrics
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6628938/
https://ncbi.nlm.nih.gov/pubmed/31338352
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fped.2019.00270
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