Painless Hematuria and Repaired Patent Ductus Arteriosus

Autor: Ioannis Kyriakides, Zoe Dorothea Pana, Andreas A. Giannopoulos, Maria Stamou, Maria Hatzistilianou
Rok vydání: 2019
Předmět:
Zdroj: Pediatric Immunology ISBN: 9783030212612
DOI: 10.1007/978-3-030-21262-9_146
Popis: Microduplication 22q11.2 syndrome has been recently characterized as a new chromosomal syndrome having overlapping features with the classic DiGeorge syndrome Phenotypic variability in microduplication 22q11.2 syndrome ranges from normal or near normal phenotype to multiple congenital defects, including heart defects, velopharyngeal insufficiency with or without cleft palate, or hyper nasal speech, urogenital abnormalities and autoimmunity
Databáze: OpenAIRE