Linked Life Data

18177199

Source:http://linkedlifedata.com/resource/pubmed/id/18177199

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
2008-1-7
pubmed:abstractText
Orofaciodigital syndromes have many clinical and cephalometric anomalies, including facial irregularities, oral cavity abnormalities, and malformations of fingers and toes. In this case of twin girls, buccal exploration, cephalometric examination, and genetic analysis were performed to diagnose Orofaciodigital I or Orofaciodigital II syndrome. Clinically, the twins had several dental and skeletal irregularities. Genetic analysis revealed a DNA segment abnormality corresponding to exon 3 and presence of nucleotide change, 243C>G, leading to the missense mutation H81Q. This causative mutation associated with the OFD1 gene has not been reported previously. Both patients were diagnosed as having Orofaciodigital I syndrome.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
D
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Nov
pubmed:issn
1055-6656
pubmed:author
pubmed:issnType
Print
pubmed:volume
44
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
660-6
pubmed:meshHeading
pubmed:year
2007
pubmed:articleTitle
Buccal anomalies, cephalometric analysis and genetic study of two sisters with orofaciodigital syndrome type I.
pubmed:affiliation
Department of Pediatric Dentistry and Orthodontics, Rey Juan Carlos University, and Hospital 12 de Octubre, Madrid, Spain. martinromero@hispavista.com
pubmed:publicationType
Journal Article, Case Reports