A recessive form of craniodiaphyseal dysplasia caused by a homozygous missense variant in SP7/Osterix

Affiliations

• ¹ Department of Medical Genetics, Antwerp University Hospital and University of Antwerp, 2650 Edegem, Belgium; Laboratory for Skeletal Dysplasia Research, Department of Human Genetics, KU Leuven, Herestraat 49, 3000 Leuven, Belgium.
• ² Department of Medical Genetics, Antwerp University Hospital and University of Antwerp, 2650 Edegem, Belgium.
• ³ INSERM U1132 and Université de Paris, Reference Centre for Rare Bone Diseases, Hospital Robert Debré, F-75010 Paris, France.
• ⁴ Department of Medical Genetics, Antwerp University Hospital and University of Antwerp, 2650 Edegem, Belgium; Laboratory for Skeletal Dysplasia Research, Department of Human Genetics, KU Leuven, Herestraat 49, 3000 Leuven, Belgium; Center for Human Genetics, University Hospital Leuven, Leuven, Belgium.
• ⁵ Montpellier University and INSERM U1183, Montpellier, France; Competence Center for Bone Diseases, Clinical Genetics Unit, Montpellier University Hospital, Montpellier, France.
• ⁶ Department of Medical Genetics, Antwerp University Hospital and University of Antwerp, 2650 Edegem, Belgium. Electronic address: wim.vanhul@uantwerpen.be.