Associated Papers
ASXL1-related Bohring-Optiz syndrome complicated by persistent neonatal pulmonary hypertension and abnormal alveoli formation.
Arioka M et al.
European Journal of Medical Genetics, 2024
Presence of Myeloid Mutations in Patients with Chronic Myeloid Leukemia Increases Risk of Cardiovascular Event on Tyrosine Kinase Inhibitor Treatment.
Stuckey R et al.
Cancers, 2023
37444494 (PubMed )
Supplement: cancers-15-03384-s001.zip › cancers-2437181-supplementary.pdf
Multiomics of Bohring-Opitz syndrome truncating ASXL1 mutations identify canonical and noncanonical Wnt signaling dysregulation.
Lin I et al.
Jci Insight, 2023
37053013 (PubMed )
Supplement: jciinsight-8-167744-s107.xlsx › Table_S1_Patient_
Clinical findings in 39 individuals with Bohring-Opitz syndrome from a global patient-driven registry with implications for tumor surveillance and recurrence risk.
Russell BE et al.
American Journal of Medical Genetics. Part A, 2023
Examining the neurodevelopmental and motor phenotypes of Bohring-Opitz syndrome (ASXL1) and Bainbridge-Ropers syndrome (ASXL3).
Ayoub MC et al.
Frontiers in Neuroscience, 2023
A de novo Variant of ASXL1 Is Associated With an Atypical Phenotype of Bohring-Opitz Syndrome: Case Report and Literature Review.
Zhao W et al.
Frontiers in Pediatrics, 2021
The ASXL1 mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring-Opitz Syndrome.
Urreizti R et al.
Clinical Case Reports, 2018
Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance.
Russell B et al.
American Journal of Medical Genetics. Part A, 2015
Select a paper to view details