A case report of T-box 1 mutation causing phenotypic features of chromosome 22q11.2 deletion syndrome

A case report of T-box 1 mutation causing phenotypic features of chromosome 22q11.2 deletion syndrome

Abstract 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 hypop...

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Bibliographic Details
Main Authors: Raad A. Haddad, Gregory A. Clines, Jennifer A. Wyckoff
Format: Article
Language:English
Published: BMC 2019-08-01
Series:Clinical Diabetes and Endocrinology
Subjects:
22q11.2 deletion
DiGeorge syndrome
Hypoparathyroidism
Hypocalcemia
Online Access:http://link.springer.com/article/10.1186/s40842-019-0087-6

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http://link.springer.com/article/10.1186/s40842-019-0087-6

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