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Mesomelia-synostoses syndrome: Description of a patient presenting a monoallelic expression of SULF1 without alterations in the SLCOA1 gene.
- Source :
-
Clinical genetics [Clin Genet] 2019 Feb; Vol. 95 (2), pp. 336-338. Date of Electronic Publication: 2018 Nov 18. - Publication Year :
- 2019
- Subjects :
- Child
Chromosome Mapping
Comparative Genomic Hybridization
Genotype
Humans
Male
Phenotype
Abnormalities, Multiple diagnosis
Abnormalities, Multiple genetics
Alleles
Gene Expression
Genetic Association Studies
Genetic Predisposition to Disease
Limb Deformities, Congenital diagnosis
Limb Deformities, Congenital genetics
Sulfotransferases genetics
Synostosis diagnosis
Synostosis genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1399-0004
- Volume :
- 95
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- Clinical genetics
- Publication Type :
- Editorial & Opinion
- Accession number :
- 30450550
- Full Text :
- https://doi.org/10.1111/cge.13464