Nasopharyngeal teratoma, congenital diaphragmatic hernia and Dandy-Walker malformation - a yet uncharacterized syndrome.
Clin Genet
; 90(5): 470-471, 2016 11.
Article
in En
| MEDLINE
| ID: mdl-27506516
ABSTRACT
An association of congenital diaphragmatic hernia, dandy walker malformation and nasopharyngeal teratoma is very rare. Here, we report a fourth case with this association where chromosomal microarray and whole exome sequencing (WES) was performed to understand the underlying genetic basis. Findings of few variants especially a novel variation in HIRA provided some insights. An association of congenital diaphragmatic hernia, dandy walker malformation and nasopharyngeal teratoma is very rare. Here, we report a fourth case with this association where chromosomal microarray and whole exome sequencing (WES) was performed to understand the underlying genetic basis. Findings of few variants especially a novel variation in HIRA provided some insights.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Teratoma
/
Nasopharyngeal Neoplasms
/
Dandy-Walker Syndrome
/
Hernias, Diaphragmatic, Congenital
Limits:
Female
/
Humans
/
Male
/
Newborn
/
Pregnancy
Language:
En
Journal:
Clin Genet
Year:
2016
Document type:
Article
Affiliation country:
India