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A case report of T-box 1 mutation causing phenotypic features of chromosome 22q11.2 deletion syndrome
BACKGROUND: The heterozygous microdeletion of chromosome 22q11.2 results in a spectrum of disorders, including DiGeorge syndrome (DGS) and velocardiofacial syndrome (VCFS), with phenotypic features that can include the classic triad of congenital heart disease (CHD), thymic aplasia and hypoparathyro...
Autores principales: | Haddad, Raad A., Clines, Gregory A., Wyckoff, Jennifer A. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6693207/ https://www.ncbi.nlm.nih.gov/pubmed/31428446 http://dx.doi.org/10.1186/s40842-019-0087-6 |
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