OFD1

Publications

Bisschoff IJ et al. Novel Mutations Including Deletions of the Entire OFD1 Gene in 30 Families With Type 1 Orofaciodigital Syndrome: A Study of the Extensive Clinical Variability. Hum Mutat. 2013 Jan;34(1):237-47. PMID: 23033313.

Budny B et al. A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome. Hum Genet. 2006; 120(2): 171-8. PMID: 16783569.

Bukowy-Bieryllo Z et al. Truncating Mutations in Exons 20 and 21 of OFD1 Can Cause Primary Ciliary Dyskinesia Without Associated Syndromic Symptoms. J Med Genet. 2019;56(11):769-777. PMID: 31366608.

Coene KL et al. OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin. Am J Hum Genet. 2009;85(4):465–81. PMID: 19800048.

Del Giudice E et al. CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study. Orphanet J Rare Dis. 2014; 9:74. PMID: 24884629.

Ferrante MI et al. Identification of the gene for oral-facial-digital type I syndrome. Am J Hum Genet. 2001; 68(3):569-76. PMID: 11179005.

Macca M et al. The molecular basis of oral-facial-digital syndrome, type 1. Am J Med Genet C Semin Med Genet. 2009; 151C(4):318-25. PMID: 19876934.

Prattichizzo C et al. Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients. Hum Mutat. 2008; 29(10):1237-46. PMID: 18546297.

Thauvin-Robinet C et al. Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study. J Med Genet. 2006;43(1):54–61. PMID: 16397067.

Toriello HV et al. Oral-Facial-Digital Syndrome Type I. GeneReviews. Seattle (WA): University of Washington, Seattle; 1993–2020. PMID: 20301367.

Webb TR et al. Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23). Hum Mol Genet.2012; 21:3647-3654. PMID: 22619378.