Van der Woude Syndrome: IRF6 Mutations

Indian J Pediatr. 2019 Nov;86(11):1070-1071. doi: 10.1007/s12098-019-03058-4. Epub 2019 Aug 29.

Authors

Ansa P Sunny¹, Gautham Arunachal¹, Sumita Danda²

Affiliations

¹ Department of Clinical Genetics, OT Block 5th Floor, Christian Medical College, Vellore, Tamilnadu, 632004, India.
² Department of Clinical Genetics, OT Block 5th Floor, Christian Medical College, Vellore, Tamilnadu, 632004, India. sdanda@cmcvellore.ac.in.

PMID: 31468312
DOI: 10.1007/s12098-019-03058-4

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Abnormalities, Multiple / diagnostic imaging
Abnormalities, Multiple / genetics*
Abnormalities, Multiple / physiopathology
Cleft Lip / diagnostic imaging
Cleft Lip / genetics*
Cleft Lip / physiopathology
Cleft Palate / diagnostic imaging
Cleft Palate / genetics*
Cleft Palate / physiopathology
Cysts / diagnostic imaging
Cysts / genetics*
Cysts / physiopathology
Exons
Family
Female
Humans
India
Interferon Regulatory Factors / genetics*
Lip / abnormalities*
Lip / diagnostic imaging
Lip / physiopathology
Male
Mutation*
Pedigree

Substances

IRF6 protein, human
Interferon Regulatory Factors

Supplementary concepts

Van der Woude syndrome