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Nasopharyngeal teratoma, congenital diaphragmatic hernia and Dandy–Walker malformation – a yet uncharacterized syndrome
Author(s) -
Gupta N.,
Shastri S.,
Singh P.K.,
Jana M.,
Mridha A.,
Verma G.,
Kabra M.
Publication year - 2016
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.12830
Subject(s) - exome sequencing , diaphragmatic hernia , teratoma , congenital diaphragmatic hernia , dandy–walker syndrome , medicine , hernia , exome , genetics , biology , pathology , mutation , fetus , general surgery , gene , surgery , hydrocephalus , pregnancy
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.