Patient with anomalous skin pigmentation expands the phenotype of ARID2 loss-of-function disorder, a SWI/SNF-related intellectual disability
Author:
Affiliation:
1. College of Medicine; University of Nebraska Medical Center; Omaha Nebraska
2. Munroe-Meyer Institute for Genetics & Rehabilitation; University of Nebraska Medical Center; Omaha Nebraska
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.61075/fullpdf
Reference15 articles.
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2. The biology of chromatin remodeling complexes;Clapier;Annual Review of Biochemistry,2009
3. Extending the clinical and genetic spectrum of ARID2 related intellectual disability. A case series of 7 patients;Gazdagh;European Journal of Medical Genetics,2018
4. The many roles of BAF (mSWI/SNF) and PBAF complexes in cancer;Hodges;Cold Spring Harbor Perspectives in Medicine,2016
5. A landscape of driver mutations in melanoma;Hodis;Cell,2012
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1. ARID2, a milder cause of Coffin‐Siris Syndrome? Broadening the phenotype with 17 additional individuals;American Journal of Medical Genetics Part A;2024-01-19
2. Extended phenotypic characterization of a novel Helsmoortel‐van der Aa syndrome case series;American Journal of Medical Genetics Part A;2024-01-10
3. Pigmentation abnormalities in Coffin‐Siris syndrome;Clinical Genetics;2023-05-11
4. ARID2, a rare cause of Coffin‐Siris syndrome: A novel microdeletion at 12q12q13.11 causing severe short stature and literature review;American Journal of Medical Genetics Part A;2023-02-09
5. Short stature and melanocytic nevi in a girl with ARID1B-related Coffin-Siris syndrome: a case report;BMC Pediatrics;2022-08-13
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