No evidence for triallelic inheritance of MKKS/BBS loci in amish mckusick-kaufman syndrome
- Author
- NAKANE, Takaya1 ; BIESECKER, Leslie G1
[1] Genetic Diseases Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States - Source
American journal of medical genetics. = Neuropsychiatric genetics. 2005, Vol 138A, Num 1, pp 32-34, 3 p ; ref : 11 ref
- Publisher
- Wiley-Liss, New York, NY
- Publication country
- United States
- Document type
- Article
- Language
- English
- Author keyword
- Bardet-Biedl syndrome McKusick-Kaufman syndrome modifier penetrance
- Keyword (fr)
- Azote monoxyde Etat nutritionnel Génétique Homme Héritage Laurence Moon Bardet Biedl syndrome Locus Pénétrance génique Appareil génital pathologie Endocrinopathie Maladie héréditaire Malformation Obésité Oeil pathologie Syndrome complexe Système nerveux pathologie Système ostéoarticulaire pathologie Trouble nutrition
- Keyword (en)
- Nitric oxide Nutritional status Genetics Human Inheritance Laurence Moon Bardet Biedl syndrome Locus Gene penetrance Genital diseases Endocrinopathy Genetic disease Malformation Obesity Eye disease Complex syndrome Nervous system diseases Diseases of the osteoarticular system Nutrition disorder
- Keyword (es)
- Nitrógeno monóxido Estado nutricional Genética Hombre Herencia Laurence Moon Bardet Biedl síndrome Locus Penetrancia génica Aparato genital patología Endocrinopatía Enfermedad hereditaria Malformación Obesidad Ojo patología Síndrome complejo Sistema nervioso patología Sistema osteoarticular patología Trastorno nutricíon
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B22 Metabolic diseases / 002B22B Obesity
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B23 Medical genetics / 002B23A General aspects. Genetic counseling
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B23 Medical genetics / 002B23E Complex syndromes
- Discipline
- Medical genetics Metabolic diseases
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 17186982
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.30593 
https://dx.doi.org/10.1002/ajmg.a.30593
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