Novel homozygous ALX4 mutation causing frontonasal dysplasia-2 in a patient with meningoencephalocele

Clin Genet. 2015 Dec;88(6):593-6. doi: 10.1111/cge.12595. Epub 2015 May 11.

Authors

Affiliations

¹ Department of Morphology and Genetics, Genetics Division, Universidade Federal de São Paulo, São Paulo, Brazil.
² Department of Medicine, Division of Endocrinology, Universidade Federal de São Paulo, São Paulo, Brazil.
³ Department of Imaging Diagnosis, Universidade Federal de São Paulo, São Paulo, Brazil.

PMID: 25963140
DOI: 10.1111/cge.12595

No abstract available

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Base Sequence
Craniofacial Abnormalities / complications
Craniofacial Abnormalities / genetics*
DNA-Binding Proteins / genetics*
Encephalocele / complications*
Face / abnormalities*
Genetic Predisposition to Disease / genetics*
Homozygote
Humans
Infant
Male
Meningocele / complications*
Molecular Sequence Data
Mutation*
Sequence Analysis, DNA
Sequence Homology, Nucleic Acid
Transcription Factors / genetics*

Substances

ALX4 protein, human
DNA-Binding Proteins
Transcription Factors

Supplementary concepts

Frontonasal dysplasia