Bohring-Opitz syndrome (BOS) with a newASXL1pathogenic variant: Review of the most prevalent molecular and phenotypic features of the syndrome

De novoframeshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies

(2013) Darrell L Dinwiddie et al.   BMC Medical Genomics

Functional and cancer genomics of ASXL family members

(2013) M Katoh   BRITISH JOURNAL OF CANCER

Expanding our knowledge of conditions associated with the ASXL gene family

(2013) Bianca Russell et al.   Genome Medicine

De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome

(2013) Matthew N Bainbridge et al.   Genome Medicine

Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations

(2012) Pamela Magini et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Bohring–Opitz (Oberklaid–Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis

(2011) Rob Hastings et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

(2011) Alexander Hoischen et al.   NATURE GENETICS

Evolution of a patient with Bohring-Opitz syndrome

(2009) Sophie Pierron et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A