Colobomatous macrophthalmia with microcornea syndrome maps to the 2p23-p16 region
- Author
- ELCIOGLU, Nursel H1 ; AKIN, Burcu2 ; TOKER, Ebru3 ; ELCIOGLU, Mustafa4 ; KAYA, Ali5 ; TUNCALI, Timur5 6 ; WOLLNIK, Bernd7 ; HORNBY, Stella8 ; AKARSU, Nurten A2 9
[1] Genetic Disorders Unit, Department of Pediatrics, Marmara University Medical Faculty, Istanbul, Turkey
[2] Gene Mapping Laboratory, Pediatric Hematology Unit, Department of Pediatrics, Hacettepe University Medical Faculty, Ankara, Turkey
[3] Department of Ophthalmology, Marmara University Medical Faculty, Istanbul, Turkey
[4] Beyoglu Eye Education and Research Hospital, Istanbul, Turkey
[5] Molecular Biology Research and Development Unit, Ankara University Medical Faculty, Turkey
[6] Department of Medical Genetics, Ankara University Medical Faculty, Turkey
[7] Center for Molecular Medicine Cologne (CMMC) and Institute of Human Genetics, University of Cologne, Cologne, Germany
[8] Department of Ophthalmology, John Radcliffe Hospital, Headley Way, Headington, Oxford, United Kingdom
[9] Department of Medical Genetics, Hacettepe University Medical Faculty, Ankara, Turkey - Source
American journal of medical genetics. Part A. 2007, Vol 143, Num 12, pp 1308-1312, 5 p ; ref : 1/4 p
- Publisher
- Wiley-Liss, Hoboken, NJ
- Publication country
- United States
- Document type
- Article
- Language
- English
- Author keyword
- CYP1B1 SIX2 SIX3 coloboma macrophthalmia microcornea
- Keyword (fr)
- Carte génétique Cartographie Colobome Gène CDKN2 Microcornée Syndrome Kératopathie Maladie congénitale Malformation Oeil pathologie Segment antérieur pathologie
- Keyword (en)
- Genetic mapping Cartography Coloboma CDKN2 gene Microcornea Syndrome Keratopathy Congenital disease Malformation Eye disease Anterior segment disease
- Keyword (es)
- Mapa genético Cartografía Coloboma Gen CDKN2 Microcórnea Síndrome Queratopatía Enfermedad congénita Malformación Ojo patología Segmento anterior patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A07 Genetics of eukaryotes. Biological and molecular evolution / 002A07C Classical genetics, quantitative genetics, hybrids / 002A07C03 Human
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B09 Ophthalmology / 002B09A Malformations of the eye
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B09 Ophthalmology / 002B09E Diseases of cornea, anterior segment and sclera
- Discipline
- Eukaryotes genetics. Biological and molecular evolution Medical genetics Ophthalmology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 18817284
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
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DOI
10.1002/ajmg.a.31766 
https://dx.doi.org/10.1002/ajmg.a.31766
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