A novel familial autosomal dominant mutation in ARID1B causing neurodevelopmental delays, short stature, and dysmorphic features.

Smith, Joshua A; Holden, Kenton R; Friez, Michael J; Jones, Julie R; Lyons, Michael J

Smith, Joshua A; Holden, Kenton R; Friez, Michael J; Jones, Julie R; Lyons, Michael J.

Affiliation

Smith JA; Department of Neurology, College of Medicine, Medical University of South Carolina, Charleston, South Carolina.
Holden KR; Department of Neurology, College of Medicine, Medical University of South Carolina, Charleston, South Carolina.
Friez MJ; Department of Pediatrics, College of Medicine, Medical University of South Carolina, Charleston, South Carolina.
Jones JR; Clinical Genetics, Greenwood Genetic Center, Greenwood, South Carolina.
Lyons MJ; Clinical Genetics, Greenwood Genetic Center, Greenwood, South Carolina.

Am J Med Genet A ; 170(12): 3313-3318, 2016 12.

Article in En | MEDLINE | ID: mdl-27570168

Subject(s)

Abnormalities, Multiple/genetics; DNA-Binding Proteins/genetics; Developmental Disabilities/genetics; Dwarfism/genetics; Genes, Dominant; Mutation; Phenotype; Transcription Factors/genetics; Abnormalities, Multiple/diagnosis; Alleles; Amino Acid Substitution; Developmental Disabilities/diagnosis; Dwarfism/diagnosis; Exome; Facies; Female; Genetic Association Studies; Genotype; High-Throughput Nucleotide Sequencing; Humans; Infant; Male; Young Adult

Key words

ARID1B; autosomal dominant inheritance; dysmorphic features; exome sequencing; intellectual disability

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Transcription Factors / Abnormalities, Multiple / Developmental Disabilities / DNA-Binding Proteins / Dwarfism / Genes, Dominant / Mutation Type of study: Diagnostic_studies / Prognostic_studies Limits: Adult / Female / Humans / Infant / Male Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2016 Type: Article

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