- ... Deletion/ duplication analysis ( genomic approach) detects deletion of 15q26 using a chromosomal microarray (CMA) that includes this ... window Gene Chromosome Locus Protein HGMD ClinVar CHD2 15q26 .1 Chromodomain-helicase-DNA-binding protein 2 CHD2 ...
- ... Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1. J Med Genet. 2005 ...
- ... small lower jaw, large nose, and prominent ears. 15q26.1 BLM ( RecQL3 ) DNA helicase Diamond-Blackfan anemia [ ...
- ... Locus Protein Locus-Specific Databases HGMD ClinVar POLG 15q26 .1 DNA polymerase subunit gamma-1 POLG database ...
- ... 3-N-acetylglucosaminyltransferase lunatic fringe LFNG LFNG MESP2 15q26 .1 Mesoderm posterior protein 2 MESP2 database MESP2 ...
- ... mouth Insulin growth factor 1 resistance (incl deletion 15q26.1) 3 IGF1R AR AD Clinodactyly Dental anomalies ...
- ... Fanconi Anaemia Mutation Database (FANCG) FANCG FANCG FANCI 15q26 .1 Fanconi anemia group I protein Fanconi Anemia ...
10 results