Diagnostic exome sequencing identifies two novel IQSEC2 mutations associated with X-linked intellectual disability with seizures: implications for genetic counseling and clinical diagnosis.
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Diagnostic Exome Sequencing Identifies a Novel Gene, EMILIN1, Associated with Autosomal-Dominant Hereditary Connective Tissue DiseaseNovel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 FamilyThe BRAG/IQSec family of Arf GEFs.Clinical diagnostic exome evaluation for an infant with a lethal disorder: genetic diagnosis of TARP syndrome and expansion of the phenotype in a patient with a newly reported RBM10 alteration.Autism spectrum disorder and epileptic encephalopathy: common causes, many questions.Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.Xp11.2 microduplications including IQSEC2, TSPYL2 and KDM5C genes in patients with neurodevelopmental disorders.Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients.Gonadal mosaicism of a novel IQSEC2 variant causing female limited intellectual disability and epilepsy.Exome sequencing positively identified relevant alterations in more than half of cases with an indication of prenatal ultrasound anomalies.Incorrect dosage of IQSEC2, a known intellectual disability and epilepsy gene, disrupts dendritic spine morphogenesis.A novel splicing mutation in the IQSEC2 gene that modulates the phenotype severity in a family with intellectual disability.Developmental progression of intellectual disability, autism, and epilepsy in a child with an IQSEC2 gene mutation.The molecular and phenotypic spectrum of IQSEC2-related epilepsy.BRAT1 mutations present with a spectrum of clinical severity.Rett-like phenotypes: expanding the genetic heterogeneity to the KCNA2 gene and first familial case of CDKL5-related disease.The role of IQSEC2 in syndromic intellectual disability: Narrowing the diagnostic odyssey.Identification of a syndrome comprising microcephaly and intellectual disability but not white matter disease associated with a homozygous c.676C>T p.R226W DEAF1 mutation.Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome.Synaptic Disorders
P2860
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P2860
Diagnostic exome sequencing identifies two novel IQSEC2 mutations associated with X-linked intellectual disability with seizures: implications for genetic counseling and clinical diagnosis.
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2013 nî lūn-bûn
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2013年の論文
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2013年学术文章
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2013年学术文章
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name
Diagnostic exome sequencing id ...... seling and clinical diagnosis.
@en
Diagnostic exome sequencing id ...... seling and clinical diagnosis.
@nl
type
label
Diagnostic exome sequencing id ...... seling and clinical diagnosis.
@en
Diagnostic exome sequencing id ...... seling and clinical diagnosis.
@nl
prefLabel
Diagnostic exome sequencing id ...... seling and clinical diagnosis.
@en
Diagnostic exome sequencing id ...... seling and clinical diagnosis.
@nl
P2093
P2860
P1476
Diagnostic exome sequencing id ...... seling and clinical diagnosis.
@en
P2093
K D Farwell Gonzalez
L Shahmirzadi
P Pichurin
Stephanie K Gandomi
P2860
P304
P356
10.1007/S10897-013-9671-6
P577
2013-12-04T00:00:00Z