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MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.
10.1111/cge.12081
000330092900004
23320472
Makrythanasis
P.
author
van Bon
B.W.
author
Steehouwer
M.
author
Rodríguez-Santiago
B.
author
Simpson
M.
author
Dias
P.
author
Anderlid
B.M.
author
Arts
P.
author
Bhat
M.
author
Augello
B.
author
Biamino
E.
author
Bongers
E.M.
author
Del Campo
M.
author
Cordeiro
I.
author
Cueto-González
A.M.
author
Cuscó
I.
author
Deshpande
C.
author
Frysira
E.
author
Izatt
L.
author
Flores
R.
author
Galán
E.
author
Gener
B.
author
Gilissen
C.
author
Granneman
S.M.
author
Hoyer
J.
author
Yntema
H.G.
author
Kets
C.M.
author
Koolen
D.A.
author
Marcelis
Cl
author
Medeira
A.
author
Micale
L.
author
Mohammed
S.
author
de Munnik
S.A.
author
Nordgren
A.
author
Psoni
S.
author
Reardon
W.
author
Revencu
N.
author
Roscioli
T.
author
Ruiterkamp-Versteeg
M.
author
Santos
H.G.
author
Schoumans
J.
author
Schuurs-Hoeijmakers
J.H.
author
Silengo
M.C.
author
Toledo
L.
author
Vendrell
T.
author
van der Burgt
I.
author
van Lier
B.
author
Zweier
C.
author
Reymond
A.
author
Trembath
R.C.
author
Perez-Jurado
L.
author
Dupont
J.
author
de Vries
B.B.
author
Brunner
H.G.
author
Veltman
J.A.
author
Merla
G.
author
Antonarakis
S.E.
author
Hoischen
A.
author
article
2013-12
Clinical genetics
1399-0004
0009-9163
journal
84
6
539-545
Abnormalities, Multiple/diagnosis
Abnormalities, Multiple/genetics
DNA-Binding Proteins/genetics
Face/abnormalities
Facies
Female
Genetic Association Studies
Hematologic Diseases/diagnosis
Hematologic Diseases/genetics
Humans
Male
Mutation
Neoplasm Proteins/genetics
Phenotype
Sequence Analysis, DNA
Vestibular Diseases/diagnosis
Vestibular Diseases/genetics
Kabuki syndrome
MLL2
Niikawa-Kuroki syndrome
genotype-phenotype correlation
eng
60_published
peer-reviewed
Publication types: Journal Article ; Research Support, Non-U.S. Gov't
Publication Status: ppublish