Extending the phenotypic spectrum of Bohring‐Opitz syndrome: Mild case confirmed by functional studies
Author:
Affiliation:
1. Rare Disease Institute Children's National Health System Washington District of Columbia
2. Department of Genetics, Microbiology and Statistics, Faculty of Biology IBUB, IRSJD, CIBERER, University of Barcelona Barcelona Spain
Funder
Catalan Government
CIBERER
Ministerio de Economia y Competitividad de Espana
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61397
Reference10 articles.
1. Asxl1 ablation in mouse embryonic stem cells impairs neural differentiation without affecting self-renewal
2. Severe end of Opitz trigonocephaly (C) syndrome or new syndrome?
3. Bohring–Opitz (Oberklaid–Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis
4. De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome
5. Bach1Deficiency and Accompanying Overexpression of Heme Oxygenase-1 Do Not Influence Aging or Tumorigenesis in Mice
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