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High incidence of the R276X SALL1 mutation in sporadic but not familial Townes-Brocks syndrome and report of the first familial case.
- Source :
-
Journal of medical genetics [J Med Genet] 2003 Nov; Vol. 40 (11), pp. e127. - Publication Year :
- 2003
- Subjects :
- Abnormalities, Multiple epidemiology
Adolescent
Adult
Child
Child, Preschool
Female
Humans
Incidence
Infant, Newborn
Limb Deformities, Congenital epidemiology
Male
Nuclear Family
Abnormalities, Multiple genetics
Anal Canal abnormalities
Arginine genetics
Ear abnormalities
Kidney abnormalities
Limb Deformities, Congenital genetics
Mutation, Missense genetics
Transcription Factors genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1468-6244
- Volume :
- 40
- Issue :
- 11
- Database :
- MEDLINE
- Journal :
- Journal of medical genetics
- Publication Type :
- Academic Journal
- Accession number :
- 14627694
- Full Text :
- https://doi.org/10.1136/jmg.40.11.e127