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Paper Details

Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis.
Genet Med
0
2022
ADAMTS15, ADAMTS15 variants, Adamts15, Osr1, arthrogryposis syndrome, autosomal recessive connective tissue disorder, congenital flexion contractures of the interphalangeal joints, distal arthrogryposis, knee, Achilles tendon, and toe contractures, mouse, murine, orthodontic abnormalities, palmar creases, rare variant alleles, scoliosis, single, skeletal muscle, spinal stiffness
Author NameAffiliation
Zeynep Coban AkdemirUTHealth School of Public Health, The University of Texas
Bj??rn Fischer-ZirnsakInstitute of Medical Genetics and Human Genetics, Charite - Universitatsmedizin Berlin, Corporate Member of Freie Universitat Berlin and Humboldt-Universitat zu Berlin, Max Planck Institute for Molecular Genetics
Jennifer E PoseyBaylor College of Medicine
Malte SpielmannInstitute of Human Genetics, University of Lubeck, Germany Institute of Human Genetics, Kiel University
Denise HornInstitute of Medical Genetics and Human Genetics, Charite - Universitatsmedizin Berlin, Corporate Member of Freie Universitat Berlin and Humboldt-Universitat zu Berlin
James R LupskiBaylor College of Medicine, TX Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital
James R LupskiBaylor College of Medicine, TX Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital
Uwe KornakInstitute of Medical Genetics and Human Genetics, Charite - Universitatsmedizin Berlin, Corporate Member of Freie Universitat Berlin and Humboldt-Universitat zu Berlin, Max Planck Institute for Molecular Genetics, Germany Institute of Human Genetics, University Medical Center Gottingen
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