RNF135 mutations are not present in patients with Sotos syndrome-like features.
Visser
Remco
R
Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands. r.visser@lumc.nl
Koelma
Nynke
N
Vijfhuizen
Linda
L
van der Wielen
Michiel J R
MJ
Kant
Sarina G
SG
Breuning
Martijn H
MH
Wit
Jan M
JM
Losekoot
Monique
M
D000293:Adolescent; D000328:Adult; D002352:Carrier Proteins / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D019465:Craniofacial Abnormalities / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D016514:Genes, Neurofibromatosis 1; D006130:Growth Disorders / Q000235:genetics*; D000076983:Histone Methyltransferases; D011495:Histone-Lysine N-Methyltransferase; D006801:Humans; D007223:Infant; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics; D007859:Learning Disabilities / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics; D010641:Phenotype; D013577:Syndrome; D044767:Ubiquitin-Protein Ligases; D055815:Young Adult
D002352:Carrier Proteins; D047908:Intracellular Signaling Peptides and Proteins; D009687:Nuclear Proteins; D000076983:Histone Methyltransferases; D011495:Histone-Lysine N-Methyltransferase; C113272:NSD1 protein, human; C522809:RNF135 protein, human; D044767:Ubiquitin-Protein Ligases