- Title
- Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly
- Creators
- Jeffrey E Ming - Division of Human Genetics, Departments of Pediatrics and Genetics, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, United StatesMichelle E Kaupas - Division of Neurology, Departments of Pediatrics and Genetics, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, United StatesErich Roessler - Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, MSC 1852, Building 10, 10C103, Bethesda, MD 20892-1852, United StatesHan G Brunner - University of Nijmegen, Nijmegen, NetherlandsMahin Golabi - University of California, San Francisco, California, United StatesMustafa Tekin - Medical College of Virginia, Richmond, Virginia, United StatesRobert F Stratton - University of Texas Health Science Center, San Antonio, Texas, United StatesEva Sujansky - Children's Hospital, Denver, Colorado, United StatesSherri J Bale - NIAMS, NIH, Bethesda, Maryland, United StatesMaximilian Muenke - Division of Human Genetics, Departments of Pediatrics and Genetics, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, United States
- Publication Details
- Human genetics, Vol.110(4), pp.297-301
- Publisher
- Springer
- Academic Unit
- Miller School of Medicine; UMMG Dept of Human Genetics - Clinical and Translational Genetics; UMMG Dept of Human Genetics (Dr. John T. Macdonald Foundation)
- Language
- English
- Resource Type
- Journal article
- PMID
- 11941477
- Record Identifier
- 991031613286802976
Journal article
Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly
Human genetics, Vol.110(4), pp.297-301
2002
PMID: 11941477
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- Collaboration types
- Domestic collaboration
- International collaboration
- Citation topics
- 1 Clinical & Life Sciences
- 1.186 Chromosome Disorders
- 1.186.948 Digeorge Syndrome
- Web Of Science research areas
- Genetics & Heredity
- ESI research areas
- Molecular Biology & Genetics
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Source: InCites