Expanding the Pre- and Postnatal Phenotype of WASHC5 and CCDC22 -Related Ritscher-Schinzel Syndromes
Author:
Publisher
Elsevier BV
Subject
General Earth and Planetary Sciences,General Environmental Science
Reference22 articles.
1. Expansion of the CCDC22 associated Ritscher-Schinzel/3C syndrome and review of the literature: Should the minimal diagnostic criteria be revised?;C E Gjerulfsen;Eur J Med Genet,2021
2. A novel mutation in KIAA0196: identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort;A M Elliott;J Med Genet,2013
3. Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome;M Kolanczyk;Eur J Hum Genet,2015
4. Biallelic VPS35L pathogenic variants cause 3C/Ritscher-Schinzel-like syndrome through dysfunction of retriever complex;K Kato;J Med Genet,2020
5. Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities;M Jeanne;Am J Hum Genet,2021
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