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Deletion of chromosome 8q22.1, a critical region for Nablus mask-like facial syndrome: four additional cases support a role of genetic modifiers in the manifestation of the phenotype.
- Source :
-
American journal of medical genetics. Part A [Am J Med Genet A] 2015 Jun; Vol. 167 (6), pp. 1400-5. Date of Electronic Publication: 2015 Apr 02. - Publication Year :
- 2015
- Subjects :
- Abnormalities, Multiple diagnosis
Abnormalities, Multiple pathology
Adolescent
Blepharophimosis diagnosis
Blepharophimosis pathology
Child, Preschool
Chromosomes, Human, Pair 8
Craniofacial Abnormalities diagnosis
Craniofacial Abnormalities pathology
Facies
Female
Genotype
Heterozygote
Humans
Male
Oligonucleotide Array Sequence Analysis
Abnormalities, Multiple genetics
Blepharophimosis genetics
Craniofacial Abnormalities genetics
DNA Copy Number Variations
Monosomy
Phenotype
Subjects
Details
- Language :
- English
- ISSN :
- 1552-4833
- Volume :
- 167
- Issue :
- 6
- Database :
- MEDLINE
- Journal :
- American journal of medical genetics. Part A
- Publication Type :
- Academic Journal
- Accession number :
- 25846266
- Full Text :
- https://doi.org/10.1002/ajmg.a.36848