A 0.7 Mb de novo duplication at 7q21.3 including the genesDLX5andDLX6in a patient with split-hand/split-foot malformation
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference27 articles.
1. X-chromosomally inherited split-hand/split-foot anomaly in a Pakistani kindred;Ahmad;Hum Genet,1987
2. Split hand foot malformation is associated with a reduced level of Dactylin gene expression;Basel;Clin Genet,2003
3. Deletion of chromosome 2q24-q31 causes characteristic digital anomalies: Case report and review;Boles;Am J Med Genet,1995
4. Bilateral split hand/foot malformation and inv (7) (p22q21.3);Cobben;J Med Genet,1995
5. Characterization of the split hand/split foot malformation locus SHFM1 at 7q21.3-q22.1 and analysis of a candidate gene for its expression during limb development;Crackower;Hum Mol Genet,1996
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1. The prenatal diagnosis and genetic counseling of chromosomal micro-duplication on 10q24.3 in a fetus;Medicine;2020-10-16
2. Duplication of 10q24 locus: broadening the clinical and radiological spectrum;European Journal of Human Genetics;2019-01-08
3. Identification of a de novo variant in CHUK in a patient with an EEC/AEC syndrome-like phenotype and hypogammaglobulinemia;American Journal of Medical Genetics Part A;2017-05-17
4. A CNV Catalogue;Human Chromosome Variation: Heteromorphism, Polymorphism and Pathogenesis;2017
5. A Novel Heterozygous Intragenic Sequence Variant in DLX6 Probably Underlies First Case of Autosomal Dominant Split-Hand/Foot Malformation Type 1;Molecular Syndromology;2016-12-20
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