Genotype-phenotype correlation in patients suspected of having Sotos syndrome.
de Boer
Lonneke
L
Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands.
Kant
Sarina G
SG
Karperien
Marcel
M
van Beers
Lotte
L
Tjon
Jennifer
J
Vink
Geraldine R
GR
van Tol
Dewy
D
Dauwerse
Hans
H
le Cessie
Saskia
S
Beemer
Frits A
FA
van der Burgt
Ineke
I
Hamel
Ben C J
BC
Hennekam
Raoul C
RC
Kuhnle
Ursula
U
Mathijssen
Inge B
IB
Veenstra-Knol
Hermine E
HE
Stumpel
Connie T Schrander
CT
Breuning
Martijn H
MH
Wit
Jan M
JM
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology*; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000235:genetics* / Q000473:pathology*; D005260:Female; D005838:Genotype; D006330:Heart Defects, Congenital / Q000235:genetics; D000076983:Histone Methyltransferases; D011495:Histone-Lysine N-Methyltransferase; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics; D010375:Pedigree; D010641:Phenotype; D013577:Syndrome
D047908:Intracellular Signaling Peptides and Proteins; D009687:Nuclear Proteins; D000076983:Histone Methyltransferases; D011495:Histone-Lysine N-Methyltransferase; C113272:NSD1 protein, human