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Fig. 2 | Orphanet Journal of Rare Diseases

Fig. 2

From: Mutation spectrum of EXT1 and EXT2 in the Saudi patients with hereditary multiple exostoses

Fig. 2

Sequence analysis of EXT1 and EXT2 in the patients with hereditary multiple exostoses. Representative electropherograms of previously reported EXT1and EXT2 mutations are shown. Heterozygous mutations are present in the patients and affected family members except for the affected mother (patient#12) in Family 9 who carries a homozygous mutation whereas her daughter (patient#13) has a heterozygous mutation. The mutation is indicated by an arrow

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