Mutation of PACS1: the milder end of the spectrum
- 1 October 2018
- journal article
- research article
- Published by Ovid Technologies (Wolters Kluwer Health) in Clinical Dysmorphology
- Vol. 27 (4), 148-150
- https://doi.org/10.1097/mcd.0000000000000237
Abstract
No abstract availableThis publication has 5 references indexed in Scilit:
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- 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