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Fig. 1 | Orphanet Journal of Rare Diseases

Fig. 1

From: Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome

Fig. 1

Results of ANTXR2 mutation screening in 19 unrelated HFS patients. (a) Scheme of the 17-exon ANTXR2 gene (coding parts of exons to scale). The exonic localisation as well as the number of independent observations (in parentheses) of pathogenic homozygous variant are indicated below the scheme. Novel variants are underlined. (b) Exemplary Sanger sequencing traces for patients that harbor one of the three novel variants each. RefSeq, reference sequence

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