Novel mutations in the LRP5 gene in patients with Osteoporosis-pseudoglioma syndrome

Am J Med Genet A. 2017 Dec;173(12):3132-3135. doi: 10.1002/ajmg.a.38491. Epub 2017 Oct 21.

Minna Pekkinen^{1

2}, Giedre Grigelioniene³, Leyla Akin⁴, Krati Shah⁵, Kadri Karaer⁶, Selim Kurtoğlu⁴, Alka Ekbote⁵, Zehra Aycan⁷, Elif Sağsak⁷, Sumita Danda⁵, Eva Åström⁸, Outi Mäkitie^{1

2

3}

¹ Folkhälsan Institute of Genetics, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland.
² Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
³ Center for Molecular Medicine, Karolinska Institutet and Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
⁴ Erciyes University, Faculty of Medicine, Department of Pediatric Endocrinology, Turkey.
⁵ Department of Clinical Genetics, Christian Medical College and Hospital Vellore, India.
⁶ Intergen, Genetic Diagnosis Research and Application Center, Ankara, Turkey.
⁷ Dr.Sami Ulus Children's Hospital, Department of Pediatric Endocrinology, Ankara, Turkey.
⁸ Department of Woman and Child Health, Karolinska Institutet and Pediatric Neurology, Astrid Lindgren Children's Hospital at Karolinska University Hospital, Stockholm, Sweden.

No abstract available

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