Delineating the CCDC22 ‐related Ritscher–Schinzel syndrome phenotype in the original family
Author:
Affiliation:
1. Genetic Health Queensland Royal Brisbane & Women's Hospital Brisbane Queensland Australia
2. School of Medicine The University of Queensland Brisbane Queensland Australia
3. School of Medicine Griffith University Gold Coast Queensland Australia
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62963
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1. Novel KIAA1033 / WASHC4 mutations in three patients with syndromic intellectual disability and a review of the literature
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4. A Requirement for Nuclear Factor- B in Developmental and Plasticity-Associated Synaptogenesis
5. HDAC-mediated deacetylation of NF-κB is critical for Schwann cell myelination
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