Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia.
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Update on the Genetics of Dystonia.Emerging Monogenic Complex Hyperkinetic Disorders.Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.Molecular diversity of combined and complex dystonia: insights from diagnostic exome sequencing.KMT2B rare missense variants in generalized dystonia.A novel, in-frame KMT2B deletion in a patient with apparently isolated, generalized dystonia.De novo variants in SETD1B are associated with intellectual disability, epilepsy and autism.KMT2B: A new twist in dystonia genetics.New gene implicated in early-onset generalized dystonia: Lysine-specific methyltransferase 2B (KMT2B).19q13.11 microdeletion: Clinical features overlapping ectrodactyly ectodermal dysplasia‐clefting syndrome phenotype.
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P2860
Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia.
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2016 nî lūn-bûn
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2016年の論文
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2016年学术文章
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2016年学术文章
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2016年学术文章
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2016年学术文章
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2016年学术文章
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2016年學術文章
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2016年學術文章
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2016年學術文章
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name
Haploinsufficiency of KMT2B, E ...... ly-Onset Generalized Dystonia.
@en
Haploinsufficiency of KMT2B, E ...... ly-Onset Generalized Dystonia.
@nl
type
label
Haploinsufficiency of KMT2B, E ...... ly-Onset Generalized Dystonia.
@en
Haploinsufficiency of KMT2B, E ...... ly-Onset Generalized Dystonia.
@nl
prefLabel
Haploinsufficiency of KMT2B, E ...... ly-Onset Generalized Dystonia.
@en
Haploinsufficiency of KMT2B, E ...... ly-Onset Generalized Dystonia.
@nl
P2093
P2860
P1476
Haploinsufficiency of KMT2B, E ...... ly-Onset Generalized Dystonia.
@en
P2093
Andres Ceballos-Baumann
Bader Alhaddad
Bernhard Haslinger
Esther M Maier
Franco Laccone
Ingo Borggraefe
Juliane Winkelmann
Katharina Vill
Michael Zech
Riccardo Berutti
P2860
P304
P356
10.1016/J.AJHG.2016.10.010
P407
P577
2016-11-09T00:00:00Z