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  5. Alopecia mental retardation hypogonadism

Alopecia mental retardation hypogonadism

December 31, 2014

Latest Research

  • <em>PNPLA6</em> Disorders
  • A case of congenital lamellar ichthyosis, alopecia universalis and hypohidrosis with psychomotor retardation and epilepsy. Rud syndrome?
  • A case of Woodhouse-Sakati syndrome with pituitary iron deposition, cardiac and intestinal anomalies, with a novel mutation in DCAF17
  • A diagnostic approach for neurodegeneration with brain iron accumulation: clinical features, genetics and brain imaging
  • A newly recognized genetic syndrome of tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities
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