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...

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Detalles Bibliográficos
Autores principales: Haddad, Raad A., Clines, Gregory A., Wyckoff, Jennifer A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Case Report
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

Internet

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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