Facies

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  Subject Areas on Research

  • A genomic copy number variant analysis implicates the MBD5 and HNRNPU genes in Chinese children with infantile spasms and expands the clinical spectrum of 2q23.1 deletion. 
  • BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies. 
  • Cantú syndrome: report of nine new cases and expansion of the clinical phenotype. 
  • Chromosome 22q11.2 deletion syndrome in African-American patients: a diagnostic challenge. 
  • Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature. 
  • Ectodermal dysplasia: otolaryngologic manifestations and management. 
  • Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus. 
  • Eye dominance and the mechanisms of eye contact. 
  • Further clinical and molecular delineation of the 15q24 microdeletion syndrome. 
  • HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals. 
  • Kilquist syndrome: A novel syndromic hearing loss disorder caused by homozygous deletion of SLC12A2. 
  • Novel variants in SPTAN1 without epilepsy: An expansion of the phenotype. 
  • Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome. 
  • TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations. 
  • The cardiofaciocutaneous syndrome.