BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome
- Author
- REIS, Linda M1 2 ; TYLER, Rebecca C1 2 ; BROECKEL, Ulrich1 2 ; SEMINA, Elena V1 2 3 ; SCHILTER, Kala F1 2 3 ; ABDUL-RAHMAN, Omar5 ; INNIS, Jeffrey W4 ; KOZEL, Beth A6 ; SCHNEIDER, Adele S7 ; BARDAKJIAN, Tanya M7 ; LOSE, Edward J8 ; MARTIN, Donna M4
[1] Department of Pediatrics, Medical College of Wisconsin, Milwaukee. WI, United States
[2] Children's Research Institute, Children's Hospital of Wisconsin, Milwaukee, WI, United States
[3] Department of Cell Biology, Neurobiology and Anatomy, Medical College of Wisconsin, Milwaukee, WI, United States
[4] Department of Pediatrics and Human Genetics, The University of Michigan Medical Center, Ann Arbor, MI, United States
[5] Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS, United States
[6] Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, United States
[7] Division of Genetics, Department of Pediatrics, Albert Einstein Medical Center, Philadelphia, PA, United States
[8] Department of Clinical Genetics, University of Alabama, Birmingham, AL, United States - Source
Human genetics. 2011, Vol 130, Num 4, pp 495-504, 10 p ; ref : 1 p
- CODEN
- HUGEDQ
- ISSN
- 0340-6717
- Scientific domain
- Biotechnology; Genetics
- Publisher
- Springer, Heidelberg
- Publication country
- Germany
- Document type
- Article
- Language
- English
- Keyword (fr)
- Arriération mentale Génétique Mutation Oeil Syndrome Trouble du développement Protéine morphogénétique osseuse 4 Appareil visuel Déficience intellectuelle
- Keyword (en)
- Mental retardation Genetics Mutation Eye Syndrome Developmental disorder Bone morphogenetic protein 4 Visual system Intellectual deficiency
- Keyword (es)
- Retraso mental Genética Mutación Ojo Síndrome Trastorno desarrollo Aparato visual Deficiencia intelectual
- 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 / 002B18 Psychopathology. Psychiatry / 002B18C Adult and adolescent clinical studies / 002B18C12 Intellectual deficiency
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B23 Medical genetics / 002B23E Complex syndromes
- Francis
- 770 Psychology. Psychoanalysis. Psychiatry / 770-D Psychopathology. Psychiatry / 770-D03 Adult and adolescent clinical studies / 770-D03L Intellectual deficiency
- Discipline
- Eukaryotes genetics. Biological and molecular evolution Medical genetics Psychopathology. Psychiatry. Clinical psychology
- Origin
- Inist-CNRS
- Database
- FRANCIS ; PASCAL
- INIST identifier
- 24541292
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
10.1007/s00439-011-0968-y 
https://dx.doi.org/10.1007/s00439-011-0968-y
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