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Quoted phrase not found in phrase index: "Orofaciodigital syndrome type 14"
Page 1
OFD1, the gene mutated in oral-facial-digital syndrome type 1, is expressed in the metanephros and in human embryonic renal mesenchymal cells.
J Am Soc Nephrol. 2003 Mar;14(3):680-9. doi: 10.1097/01.asn.0000054497.48394.d2.
J Am Soc Nephrol. 2003.
PMID: 12595504
Oral-facial-digital syndrome type 1 (OFD1) causes polycystic kidney disease (PKD) and malformations of the mouth, face and digits. ...First, it is concluded that OFD1 mutations would generally be predicted to result in unstable transcripts or nonfunctional pr …
Oral-facial-digital syndrome type 1 (OFD1) causes polycystic kidney disease (PKD) and malformations of the mouth, face and dig …
Characterization of three ciliopathy pedigrees expands the phenotype associated with biallelic C2CD3 variants.
Boczek NJ, Hopp K, Benoit L, Kraft D, Cousin MA, Blackburn PR, Madsen CD, Oliver GR, Nair AA, Na J, Bianchi DW, Beek G, Harris PC, Pichurin P, Klee EW.
Boczek NJ, et al.
Eur J Hum Genet. 2018 Dec;26(12):1797-1809. doi: 10.1038/s41431-018-0222-3. Epub 2018 Aug 10.
Eur J Hum Genet. 2018.
PMID: 30097616
Free PMC article.
WES performed on three families with presumed ciliopathy diagnoses, including orofaciodigital (OFD) syndrome, fetal encephalocele, or Joubert-related disorder, identified compound heterozygous variants in C2CD3. Biallelic variants in C2CD3 have previously been assoc …
WES performed on three families with presumed ciliopathy diagnoses, including orofaciodigital (OFD) syndrome, fetal encephaloc …
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