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

scientific article

Four novel mutations in the OFD1 (Cxorf5) gene in Finnish patients with oral-facial-digital syndrome 1 is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1136/JMG.39.4.292
P3181OpenCitations bibliographic resource ID5057528
P932PMC publication ID1735103
P698PubMed publication ID11950863

P2093author name stringI Järvelä
A Orpana
S Ala-Mello
P Kristo
A Rakkolainen
P433issue4
P407language of work or nameEnglishQ1860
P921main subjectFinlandQ33
oral-facial-digital syndromeQ3508783
P304page(s)292-6
P577publication date2002-04-01
P1433published inJournal of Medical GeneticsQ14640281
P1476titleFour novel mutations in the OFD1 (Cxorf5) gene in Finnish patients with oral-facial-digital syndrome 1
P478volume39

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cites work (P2860)
Q37491993A Novel Mutation in the OFD1 Gene in a Family with Oral-Facial-Digital Syndrome Type 1: A Case Report
Q34539684A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome
Q24299464Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy
Q24655227Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study
Q36122430Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23)
Q91650544Distinct Roles of TRAPPC8 and TRAPPC12 in Ciliogenesis via Their Interactions With OFD1
Q40330534Distinctive Skeletal Abnormalities With No Microdeletions or Microduplications on Array-CGH in a Boy With Mohr Syndrome (Oro-Facial-Digital Type II)
Q38641254Mouse Models of Rare Craniofacial Disorders.
Q39849276Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients
Q39688450Novel double-deletion mutations of the OFD1 gene creating multiple novel transcripts
Q33872321Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability
Q24320320OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin
Q24303311Ofd1, a human disease gene, regulates the length and distal structure of centrioles
Q28743873Regional selection acting on the OFD1 gene family
Q36891722Somatic mutations in GLI3 and OFD1 involved in sonic hedgehog signaling cause hypothalamic hamartoma

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