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Brachydactyly
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Mus musculus
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Mutations/Phenotypic
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Brachydactyly type A2 associated with a defect in proGDF5 processing.
Authors: Frank Plöger, Petra Seemann, Mareen Schmidt-von Kegler, Katarina Lehmann, Jörg Seidel, Klaus W Kjaer, Jens Pohl, Stefan Mundlos
Human molecular genetics 2008 May 1 -
Duplications of noncoding elements 5' of SOX9 are associated with brachydactyly-anonychia.
Authors: Ingo Kurth, Eva Klopocki, Sigmar Stricker, Jolieke van Oosterwijk, Sebastian Vanek, Jens Altmann, Heliosa G Santos, Jeske J T van Harssel, Thomy de Ravel, Andrew O M Wilkie,…
Nature genetics 2009 Aug
Thought leaders and organizations working on research involving Brachydactyly.
- University of Milan
- National Human Genome Research Institute (NHGRI)
- Institute of Basic Medical Sciences
- Charité Universitätsmedizin Berlin
- Max Planck-Institute for Molecular Genetics
- St George's Hospital Medical School
- Ghent University Hospital
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Study of Skeletal Disorders and Short Stature
conditions: Developmental Bone Disease ; Dwarfism ; Skeletal Dysplasias
interventions: none
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Evaluation of rhGH Replacement Therapy in Patients With Pseudohypoparathyroidism Type Ia (PHP Ia)
conditions: Pseudohypoparathyroidism ; Growth Hormone Deficiency, Dwarfism
interventions: recombinant human somatotropin
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