Novel truncating mutations in ASXL1 identified in two boys with Bohring-Opitz syndrome
Author:
Publisher
Elsevier BV
Subject
Genetics(clinical),Genetics,General Medicine
Reference23 articles.
1. A novel de-novo frameshift mutation of the ASXL1 gene in a classic case of Bohring-Opitz syndrome;Arunachal;Clin. Dysmorphol.,2016
2. Bohring-Opitz syndrome caused by an ASXL1 mutation inherited from a germline mosaic mother;Bedoukian;Am. J. Med. Genet.,2018
3. Severe end of Opitz trigonocephaly (C) syndrome or new syndrome?;Bohring;Am. J. Med. Genet.,1999
4. Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome;Carlston;Hum. Mutat.,2017
5. Bohring-Opitz syndrome (BOS) with a new ASXL1 pathogenic variant: review of the most prevalent molecular and phenotypic features of the syndrome;Dangiolo;Am. J. Med. Genet.,2015
Cited by 3 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Prenatal exome sequencing, a powerful tool for improving the description of prenatal features associated with genetic disorders;Prenatal Diagnosis;2024-08-13
2. Bohring-Opitz syndrome caused by a novel ASXL1 mutation (c.3762delT) in an IVF baby;Medicine;2022-02-04
3. A de novo Variant of ASXL1 Is Associated With an Atypical Phenotype of Bohring-Opitz Syndrome: Case Report and Literature Review;Frontiers in Pediatrics;2021-08-30
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