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Fig. 1 | Orphanet Journal of Rare Diseases

Fig. 1

From: Identification of a novel splicing mutation and genotype–phenotype correlations in rare PLS3-related childhood-onset osteoporosis

Fig. 1

Pedigree and genetic analysis of the family. a Pedigree of the family showing an X-linked recessive inheritance. b Pathogenic mutation in PLS3 confirmed by sanger sequencing. c Gel image showing the RT-PCR products of PLS3 cDNA fragments. d Schematic representation of the alternation of the PLS3 gene and PLS3 protein (e) induced by the splicing mutation

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172