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Fig. 2 | BMC Medical Genomics

Fig. 2

From: Novel biallelic variant in BBS9 causative of Bardet–Biedl syndrome: expanding the spectrum of disease-causing genetic alterations

Fig. 2

a Three-dimensional structures of wild-type and altered PTHB1 proteins. b Spectrum of BBS9 pathogenic variants in Bardet–Biedl syndrome. Coding exons are depicted as green boxes, non-coding exons are depicted as white boxes, green arrows indicate variants in coding regions, black arrows indicate splice-site variants and red lines indicate gross deletions (ENST00000242067.11)

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BMC Medical Genomics

ISSN: 1755-8794

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