Somatic mosaicism in a Cornelia de Lange syndrome patient with NIPBL mutation identified by different next generation sequencing approaches

  1. Baquero-Montoya, C.
  2. Gil-Rodríguez, M.C.
  3. Braunholz, D.
  4. Teresa-Rodrigo, M.E.
  5. Obieglo, C.
  6. Gener, B.
  7. Schwarzmayr, T.
  8. Strom, T.M.
  9. Gómez-Puertas, P.
  10. Puisac, B.
  11. Gillessen-Kaesbach, G.
  12. Musio, A.
  13. Ramos, F.J.
  14. Kaiser, F.J.
  15. Pié, J.
Aldizkaria:
Clinical Genetics

ISSN: 1399-0004 0009-9163

Argitalpen urtea: 2014

Alea: 86

Zenbakia: 6

Orrialdeak: 595-597

Mota: Editoriala

DOI: 10.1111/CGE.12333 GOOGLE SCHOLAR