Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.

Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.

Item
http://www.wikidata.org/entity/Q53600855
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

Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.

Item
http://www.wikidata.org/entity/Q53600855
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
P1433
P1476
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P698
P356
P1433
P1476
Exome sequencing unravels unex ...... Nicolaides-Baraitser syndromes
@en
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P698