Back to Search
Start Over
Changing facial features in a child with GAPO syndrome caused by novel mutation in the ANTXR1 gene and uniparental disomy of chromosome 2.
- Source :
-
Clinical dysmorphology [Clin Dysmorphol] 2019 Oct; Vol. 28 (4), pp. 211-214. - Publication Year :
- 2019
- Subjects :
- Alleles
Child
Chromosomes, Human, Pair 2 genetics
Genetic Testing
Genotype
Humans
Exome Sequencing
Alopecia diagnosis
Alopecia genetics
Anodontia diagnosis
Anodontia genetics
Facies
Growth Disorders diagnosis
Growth Disorders genetics
Microfilament Proteins genetics
Mutation
Optic Atrophies, Hereditary diagnosis
Optic Atrophies, Hereditary genetics
Phenotype
Receptors, Cell Surface genetics
Uniparental Disomy genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1473-5717
- Volume :
- 28
- Issue :
- 4
- Database :
- MEDLINE
- Journal :
- Clinical dysmorphology
- Publication Type :
- Academic Journal
- Accession number :
- 31425299
- Full Text :
- https://doi.org/10.1097/MCD.0000000000000292