Compound heterozygosity of mutations located in the first and third β-propeller domain of LRP4 causes sclerosteosis in a Spanish patient

• Yentl Huybrechts,
• Ellen Steenackers,
• Neveen Hamdy,
• Geert Mortier,
• Guillermo Martinez,
• Milagros Sierra Bracamonte,
• Natasha Appelman-Dijkstra,
• Wim Van Hul,
• Eveline Boudin

Affiliations

Yentl Huybrechts

Department of Medical Genetics, University of Antwerp and University Hospital of Antwerp, Edegem, Belgium; Corresponding author.

Ellen Steenackers

Department of Medical Genetics, University of Antwerp and University Hospital of Antwerp, Edegem, Belgium

Neveen Hamdy

Department of Endocrinology, Leiden University Medical Center, Leiden, Netherlands

Geert Mortier

Department of Medical Genetics, University of Antwerp and University Hospital of Antwerp, Edegem, Belgium

Guillermo Martinez

Endocrinology and Nutrition Resident, 12 de Octubre University Hospital, Madrid, Spain

Milagros Sierra Bracamonte

Endocrinology and Nutrition Resident, 12 de Octubre University Hospital, Madrid, Spain

Natasha Appelman-Dijkstra

Department of Endocrinology, Leiden University Medical Center, Leiden, Netherlands

Wim Van Hul

Department of Medical Genetics, University of Antwerp and University Hospital of Antwerp, Edegem, Belgium

Eveline Boudin

Department of Medical Genetics, University of Antwerp and University Hospital of Antwerp, Edegem, Belgium