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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...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6628938/ https://www.ncbi.nlm.nih.gov/pubmed/31338352 http://dx.doi.org/10.3389/fped.2019.00270 |