Bardet-Biedl syndrome associated with novel compound heterozygous variants in BBS12 gene.
Tamaki MorohashiTakaaki HayashiKei MizobuchiTadashi NakanoIchiro MoriokaPublished in: Documenta ophthalmologica. Advances in ophthalmology (2022)
The current observations will contribute to an expanded understanding of genotype-phenotype associations in BBS12-associated BBS.
Keyphrases