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Additional Supporting Information may be found in the online version of this article.

FilenameFormatSizeDescription
jbmr_559_sm_SupplFig1.tif47KSupplementary Figure 1. Black circles or squares in the pedigrees indicate affected members with both mutated alleles. Half-black circles or squares indicate heterozygous members with only one mutated allele. White symbols indicate members not analysed.
jbmr_559_sm_SupplFig2.tif19434KSupplementary Figure 2. (A) Highly mineralised bone tissue revealed multiple cutting artifacts (red arrow) and irregular net-like trabecular structure (white arrow). Intertrabecular spaces (yellow arrow) were scarce and showed neither adipocytes nor islands of haematopoiesis (embedding in methyl-methacrylate without decalcification, stain: toluidine blue, original magnification: x50). (B) Detail. Irregular bone trabeculae contained preferentially a mineralised primary spongiosa similar to calcified cartilage (white arrow). Lamellar structured mature bone tissue was not present. However, few osteocytes surrounded by a ring of more mature appearing bone were apparent both within the primary spongiosa (red arrow) and on the trabecular surface. Although few flat (lining cell-like) cells were evident on the trabecular surface, no sign of metabolic active osteoblasts was found in the biopsy specimen. Osteoclasts were not detected using conventional staining methods. Vascularised loose fibrotic tissue with scattered isolated haematopoietic cells occupied the intertrabecular spaces (embedding in methylmethacrylate without decalcification, stain: Giemsa, original magnification: x400).

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