Macrothrombocytopenia, psychomotor retardation, and nephropathy: a novel familial syndrome

Saudi J Kidney Dis Transpl. 2014 Nov;25(6):1304-7. doi: 10.4103/1319-2442.144273.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adolescent Development
  • Child
  • Child Development
  • Female
  • Genetic Predisposition to Disease
  • Heredity
  • Humans
  • Hypertension / diagnosis
  • Hypertension / genetics
  • Intellectual Disability / diagnosis
  • Intellectual Disability / genetics*
  • Kidney Diseases / congenital
  • Kidney Diseases / diagnosis
  • Kidney Diseases / genetics*
  • Male
  • Pedigree
  • Phenotype
  • Proteinuria / diagnosis
  • Proteinuria / genetics
  • Psychomotor Disorders / congenital
  • Psychomotor Disorders / diagnosis
  • Psychomotor Disorders / genetics*
  • Speech Disorders / diagnosis
  • Speech Disorders / genetics
  • Syndrome
  • Thrombocytopenia / congenital
  • Thrombocytopenia / diagnosis
  • Thrombocytopenia / genetics*