Bohring-Opitz syndrome (BOS) with a newASXL1pathogenic variant: Review of the most prevalent molecular and phenotypic features of the syndrome
Author:
Affiliation:
1. Department of Pediatrics; Columbia University Medical Center; New York
2. Department of Pathology; Columbia University Medical Center; New York
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference13 articles.
1. Severe end of Opitz trigonocephaly (C) syndrome or new syndrome;Bohring;Am J Med Genet,1999
2. De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome;Bainbridge;Genome Med,2013
3. De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies;Dinwiddie;BMC Med Genomics,2013
4. A human homolog of Additional sex combs, ADDITIONAL SEX COMBS-LIKE 1, maps to chromosome 20q11;Fisher;Gene,2003
5. Siblings with Bohring-Opitz syndrome;Greenhalgh;Clin Dysmorph,2003
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