Novel mutations including deletions of the entire OFD1 gene in 30 families with type I orofaciodigital syndrome: a study of the extensive clinical variability

Benzer Materyaller

• The orofaciodigital (OFD) syndromes.
  Yazar:: Baraitser, M
  Baskı/Yayın Bilgisi: (1986)
• Exome sequencing identifies a mutation in OFD1 in a male with Joubert syndrome, orofaciodigital spectrum anomalies and complex polydactyly
  Yazar:: Wentzensen, Ingrid M, ve diğerleri
  Baskı/Yayın Bilgisi: (2016)
• An Orofaciodigital Syndrome 1 Patient and Her Mother Carry the Same OFD1 Mutation but Have Different X Chromosome Inactivation Patterns
  Yazar:: Iijima, Takashi, ve diğerleri
  Baskı/Yayın Bilgisi: (2019)
• A Novel Pathogenic Splicing Mutation of OFD1 is Responsible for a Boy with Joubert Syndrome Exhibiting Orofaciodigital Spectrum Anomalies, Polydactyly and Retinitis Pigmentosa
  Yazar:: Chen L, ve diğerleri
  Baskı/Yayın Bilgisi: (2025-02-01)
• OFD syndrome.
  Yazar:: Dodge, J. A.
  Baskı/Yayın Bilgisi: (1970)