Four novel mutations in the OFD1 (Cxorf5) gene in Finnish patients with oral-facial-digital syndrome 1

Ítems similars

• Update on oral-facial-digital syndromes (OFDS)
  per: Franco, Brunella, et al.
  Publicat: (2016)
• A Novel Mutation in the OFD1 Gene in a Family with Oral-Facial-Digital Syndrome Type 1: A Case Report
  per: DEHGHAN TEZERJANI, Masoud, et al.
  Publicat: (2016)
• Fibrocystic Disease of Liver and Pancreas; Under-recognized features of the X-linked Ciliopathy Oral-Facial-Digital Syndrome Type 1 (OFD1)
  per: Chetty-John, Shilpa, et al.
  Publicat: (2010)
• Two Pediatric Cases of Primary Ciliary Dyskinesia Caused by Loss-of-Function Variants in Oral-Facial-Digital Syndrome Gene, OFD1
  per: Yifei Xu, et al.
  Publicat: (2024-01-01)
• Convergent extension movements and ciliary function are mediated by ofd1, a zebrafish orthologue of the human oral-facial-digital type 1 syndrome gene
  per: Ferrante, Maria I., et al.
  Publicat: (2009)