De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing.

De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing.

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http://www.wikidata.org/entity/Q33812098
Congenital generalized hypertrichosis: the skin as a clue to complex malformation syndromesIntellectual Disability: When the Hypertrichosis Is a ClueEarly-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes.Clinical exome sequencing for genetic identification of rare Mendelian disorders.Disrupted intricacy of histone H3K4 methylation in neurodevelopmental disorders.Histone Lysine Methylation and Neurodevelopmental Disorders.Maintenance of Positional Identity of Neural Progenitors in the Embryonic and Postnatal Telencephalon.Molecular and cellular issues of KMT2A variants involved in Wiedemann-Steiner syndrome.Nervous system development and disease: A focus on trithorax related proteins and chromatin remodelers.Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations.Whole exome sequencing reveals a MLL de novo mutation associated with mild developmental delay and without 'hairy elbows': expanding the phenotype of Wiedemann-Steiner syndrome.Modes of Interaction of KMT2 Histone H3 Lysine 4 Methyltransferase/COMPASS Complexes with Chromatin.Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.Congenital immunodeficiency in an individual with Wiedemann-Steiner syndrome due to a novel missense mutation in KMT2A.Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations
P2860

De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing.

Item
http://www.wikidata.org/entity/Q33812098
description
2014 nî lūn-bûn
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2014 թուականի Մայիսին հրատարակուած գիտական յօդուած
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2014 թվականի մայիսին հրատարակված գիտական հոդված
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2014年の論文
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2014年論文
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2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
De Novo variants in the KMT2A ...... by clinical exome sequencing.
@ast
De Novo variants in the KMT2A ...... by clinical exome sequencing.
@en
type
label
De Novo variants in the KMT2A ...... by clinical exome sequencing.
@ast
De Novo variants in the KMT2A ...... by clinical exome sequencing.
@en
prefLabel
De Novo variants in the KMT2A ...... by clinical exome sequencing.
@ast
De Novo variants in the KMT2A ...... by clinical exome sequencing.
@en
P1433
P1476
P2093
P2860
P2888
P304
P31
P356
P478
P577
P5875
P6179
P698
P932
P356
P1433
P1476
De Novo variants in the KMT2A ...... by clinical exome sequencing.
@en
P2093
P2860
P2888
P304
P31
P356
P478
P577
P5875
P6179
P698
P932