A novel missense mutation affecting the same amino acid as the recurrent PACS1 mutation in Schuurs‐Hoeijmakers syndrome
- 4 October 2017
- journal article
- letter
- Published by Wiley in Clinical Genetics
- Vol. 93 (4), 929-930
- https://doi.org/10.1111/cge.13105
Abstract
A novel causative variant (c.608G>A, p.Arg203Gln) in PACS1Keywords
Funding Information
- Japan Agency for Medical Research and Development
- Ministry of Health, Labour and Welfare
- Ministry of Education, Culture, Sports, Science and Technology
- Japan Science and Technology Agency
- Japan Society for the Promotion of Science
This publication has 5 references indexed in Scilit:
- Clinical delineation of the PACS1‐related syndrome—Report on 19 patientsAmerican Journal of Medical Genetics Part A, 2016
- Expanding the phenotype of a recurrent de novo variant in PACS1 causing intellectual disabilityClinical Genetics, 2014
- Recurrent De Novo Mutations in PACS1 Cause Defective Cranial-Neural-Crest Migration and Define a Recognizable Intellectual-Disability SyndromeAmerican Journal of Human Genetics, 2012
- A PACS-1, GGA3 and CK2 complex regulates CI-MPR traffickingThe EMBO Journal, 2006
- Cytosine methylation and the fate of CpG dinucleotides in vertebrate genomesHuman Genetics, 1989