Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.
about
Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers.SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic typeHeterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability.Chromatin Remodeling BAF (SWI/SNF) Complexes in Neural Development and Disorders.Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformation.A SMARCA2 Mutation in the First Case Report of Nicolaides-Baraitser Syndrome in Latin America: Genotype-Phenotype CorrelationMutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome.Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin-Siris syndrome-like phenotype.Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes.Novel mutation in ABBC9 gene associated with congenital hypertrichosis and acromegaloid facial features, without cardiac or skeletal anomalies: a new phenotype.Clinical features of SMARCA2 duplication overlap with Coffin-Siris syndrome.Kabuki syndrome as a cause of non-immune fetal hydrops/ascites.The role of objective facial analysis using FDNA in making diagnoses following whole exome analysis. Report of two patients with mutations in the BAF complex genes.New SMARCA2 mutation in a patient with Nicolaides-Baraitser syndrome and myoclonic astatic epilepsy.Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations.Mutational Landscapes and Phenotypic Spectrum of SWI/SNF-Related Intellectual Disability DisordersBAFopathies' DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin-Siris and Nicolaides-Baraitser syndromes
P2860
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P2860
Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年学术文章
@wuu
2015年学术文章
@zh-cn
2015年学术文章
@zh-hans
2015年学术文章
@zh-my
2015年学术文章
@zh-sg
2015年學術文章
@yue
2015年學術文章
@zh
2015年學術文章
@zh-hant
name
Exome sequencing unravels unex ...... icolaides-Baraitser syndromes.
@en
Exome sequencing unravels unex ...... icolaides-Baraitser syndromes.
@nl
type
label
Exome sequencing unravels unex ...... icolaides-Baraitser syndromes.
@en
Exome sequencing unravels unex ...... icolaides-Baraitser syndromes.
@nl
prefLabel
Exome sequencing unravels unex ...... icolaides-Baraitser syndromes.
@en
Exome sequencing unravels unex ...... icolaides-Baraitser syndromes.
@nl
P2093
P2860
P50
P1433
P1476
Exome sequencing unravels unex ...... Nicolaides-Baraitser syndromes
@en
P2093
Alexander Barthelmie
Beate Albrecht
Bernd Wollnik
Dagmar Wieczorek
Diana Braunholz
Elisabeth Graf
Frank J Kaiser
Gulen Eda Utine
Hermann-Josef Lüdecke
Ilaria Parenti
P2860
P2888
P304
P356
10.1007/S00439-015-1535-8
P577
2015-02-28T00:00:00Z