Matsuo, Mari

Long-term natural history of an adult patient with distal 22q11.2 deletion from low copy repeat-D to E. [electronic resource] - Congenital anomalies May 2019 - 102-103 p. digital

Publication Type: Case Reports; Journal Article

1741-4520

10.1111/cga.12301 doi


Adult
Aortic Valve Stenosis--genetics
Chromosomes, Human, Pair 22--chemistry
Cleft Lip--genetics
Cleft Palate--genetics
DiGeorge Syndrome--genetics
Humans
Male
Segmental Duplications, Genomic
Transcatheter Aortic Valve Replacement