Clinical utility gene card for: HMSN/HNPP HMSN types 1, 2, 3, 6 (CMT1,2,4, DSN, CHN, GAN, CCFDN, HNA); HNPP

Ítems similars

• Detection of the CMT1A/HNPP recombination hotspot in unrelated patients of European descent.
  per: Timmerman, V, et al.
  Publicat: (1997)
• A Family Harboring CMT1A Duplication and HNPP Deletion
  per: Lee, Jung Hwa, et al.
  Publicat: (2007)
• Mechanisms for Nonrecurrent Genomic Rearrangements Associated with CMT1A or HNPP: Rare CNVs as a Cause for Missing Heritability
  per: Zhang, Feng, et al.
  Publicat: (2010)
• Clinical utility gene card for: MUTYH-associated polyposis (MAP), autosomal recessive colorectal adenomatous polyposis
  per: Aretz, Stefan, et al.
  Publicat: (2010)
• Clinical utility gene card for: Familial adenomatous polyposis (FAP) and attenuated FAP (AFAP)
  per: Aretz, Stefan, et al.
  Publicat: (2011)