Bohring‐Opitz syndrome caused by an ASXL1 mutation inherited from a germline mosaic mother
Author:
Affiliation:
1. Roberts Individualized Medical Genetics CenterChildren's Hospital of PhiladelphiaPhiladelphia Pennsylvania
2. GeneDxGaithersburg Maryland
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.38686
Reference15 articles.
1. Frequent mutation of the polycomb-associated gene ASXL1 in the myelodysplastic syndromes and in acute myeloid leukemia
2. Expanding the clinical spectrum of recessive truncating mutations ofKLHL7to a Bohring-Opitz-like phenotype
3. Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome
4. Bohring-Opitz syndrome (BOS) with a newASXL1pathogenic variant: Review of the most prevalent molecular and phenotypic features of the syndrome
5. A human homolog of Additional sex combs, ADDITIONAL SEX COMBS-LIKE 1, maps to chromosome 20q11
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1. Human ASXL1 Deficiency Causes Epigenetic Dysfunction, Combined Immunodeficiency and EBV–Associated Hodgkin Lymphoma;2023-12-21
2. Relating enhancer genetic variation across mammals to complex phenotypes using machine learning;Science;2023-04-28
3. Clinical findings in 39 individuals with Bohring–Opitz syndrome from a global patient‐driven registry with implications for tumor surveillance and recurrence risk;American Journal of Medical Genetics Part A;2023-02-07
4. Role of ASXL1 in hematopoiesis and myeloid diseases;Experimental Hematology;2022-11
5. The pathophysiology of bilateral and multifocal Wilms tumors: What we can learn from the study of predisposition syndromes;Pediatric Blood & Cancer;2022-09-12
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