Article
Conotruncal malformations and absent thymus due to a deleterious NKX2-6 mutation.
Journal of medical genetics - 1 Apr 2014
Ta-Shma Asaf, El-lahham Nael, Edvardson Simon, Stepensky Polina, Nir Amiram, Perles Zeev, Gavri Sagui, Golender Julius, Yaakobi-Simhayoff Nurit, Shaag Avraham, Rein Azaria J J T, Elpeleg Orly
Abstract excerpt
BACKGROUND: Truncus arteriosus (TA) accounts for ~1% of congenital heart defects. The aetiology of isolated TA is largely unknown but when occurring as part of a syndrome, it is mostly associated with chromosome 22q11 deletion. Vice versa, the most common congenital heart defects associated with chromosome 22q11 deletion are conotruncal malformations. In this study we investigated the cause of multiple...
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