RNF135 mutations are not present in patients with Sotos syndrome-like features

Am J Med Genet A. 2009 Feb 15;149A(4):806-8. doi: 10.1002/ajmg.a.32694.

Authors

Remco Visser¹, Nynke Koelma, Linda Vijfhuizen, Michiel J R van der Wielen, Sarina G Kant, Martijn H Breuning, Jan M Wit, Monique Losekoot

Affiliation

¹ Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands. r.visser@lumc.nl

PMID: 19291764
DOI: 10.1002/ajmg.a.32694

No abstract available

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Adult
Carrier Proteins / genetics*
Child
Child, Preschool
Cohort Studies
Craniofacial Abnormalities / genetics*
DNA Mutational Analysis
Female
Genes, Neurofibromatosis 1
Growth Disorders / genetics*
Histone Methyltransferases
Histone-Lysine N-Methyltransferase
Humans
Infant
Intracellular Signaling Peptides and Proteins / genetics
Learning Disabilities / genetics
Male
Middle Aged
Mutation*
Nuclear Proteins / genetics
Phenotype
Syndrome
Ubiquitin-Protein Ligases
Young Adult

Substances

Carrier Proteins
Intracellular Signaling Peptides and Proteins
Nuclear Proteins
Histone Methyltransferases
Histone-Lysine N-Methyltransferase
NSD1 protein, human
RNF135 protein, human
Ubiquitin-Protein Ligases