HPPD: A Newly Recognized Autosomal Dominant Disorder Involving Hypertelorism, Preauricular Sinus, Punctal Pits, and Deafness Mapping to Chromosome 14q31
- Author
- SAMPATH, Srirangan1 ; KEATS, Bronya J. B1 ; LACASSIE, Yves2
[1] Department of Genetics, LSU Health Sciences Center, New Orleans, Louisiana, United States
[2] Department of Pediatrics, LSU Health Sciences Center, New Orleans and Children's Hospital, New Orleans, Louisiana, United States - Source
American journal of medical genetics. Part A. 2011, Vol 155, Num 5, pp 976-985, 10 p ; ref : 3/4 p
- Publisher
- Wiley-Liss, Chichester
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Author keyword
- autosomal dominant chromosome 14q31 deafness hypertelorism linkage mapping new syndrome preauricular sinus punctal pits
- Keyword (fr)
- Caractère autosomique Caractère dominant Carte génétique Cartographie Chromosome Déterminisme génétique Hypertélorisme Liaison génétique Maladie héréditaire Pathogénie Surdité Fistule préauriculaire Génétique Malformation Pathologie ORL Pathologie de l'oeil Trouble de l'audition
- Keyword (en)
- Autosomal character Dominant character Genetic mapping Cartography Chromosome Genetic determinism Hypertelorism Genetic linkage Genetic disease Pathogenesis Hearing loss Preauricular sinus Genetics Malformation ENT disease Eye disease Auditory disorder
- Keyword (es)
- Carácter autosómico Carácter dominante Mapa genético Cartografía Cromosoma Determinismo genético Hipertelorismo Ligamiento genético Enfermedad hereditaria Patogenia Sordera Genética Malformación ORL patología Ojo patología Trastorno auditivo
- 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 / 002B10 Otorhinolaryngology. Stomatology / 002B10D Ear, auditive nerve, cochleovestibular tract, facial nerve: diseases, semeiology / 002B10D02 Non tumoral diseases
- Discipline
- Eukaryotes genetics. Biological and molecular evolution Medical genetics Otorhinolaryngology. Stomatology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 24108490
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.33971 
https://dx.doi.org/10.1002/ajmg.a.33971
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