Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome

  1. Bárcena, C.
  2. Quesada, V.
  3. De Sandre-Giovannoli, A.
  4. Puente, D.A.
  5. Fernández-Toral, J.
  6. Sigaudy, S.
  7. Baban, A.
  8. Lévy, N.
  9. Velasco, G.
  10. López-Otín, C.
Journal:
BMC Medical Genetics

ISSN: 1471-2350

Year of publication: 2014

Volume: 15

Issue: 1

Type: Article

DOI: 10.1186/1471-2350-15-51 GOOGLE SCHOLAR lock_openOpen access editor