Somatic mosaicism for anHRAS mutation causes Costello syndrome
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference21 articles.
1. Germline mutations in HRAS proto-oncogene cause Costello syndrome
2. Hypercalciuria and urolithiasis in a case of Costello syndrome
3. Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a mutation in the COL1A2 gene of type I collagen. The mosiac parent exhibits phenotypic features of a mild form of the disease
4. HRAS mutations in Costello syndrome: Detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy
5. Tumor predisposition in Costello syndrome
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1. Dermatological manifestations in Costello syndrome: A prospective multicentric study of 31 HRAS‐positive variant patients;Journal of the European Academy of Dermatology and Venereology;2024-04-10
2. HRAS -Mutant Cardiomyocyte Model of Multifocal Atrial Tachycardia;Circulation: Arrhythmia and Electrophysiology;2024-04
3. Mosaic RASopathies: A review of disorders caused by somatic pathogenic variants in the genes of the RAS/MAPK pathway;American Journal of Medical Genetics Part C: Seminars in Medical Genetics;2022-12
4. Mosaic Manifestation of Autosomal Dominant Skin Disorders;Mosaicism in Human Skin;2022-11-24
5. Multidisciplinary Management of Costello Syndrome: Current Perspectives;Journal of Multidisciplinary Healthcare;2022-06
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