A novel compound heterozygous mutation in TTC8 identified in a Japanese patient View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2019-03-12

AUTHORS

Shigeru Sato, Takeshi Morimoto, Kikuko Hotta, Takashi Fujikado, Kohji Nishida

ABSTRACT

Bardet–Biedl syndrome (BBS), characterized by rod-cone dystrophy, postaxial polydactyly, central obesity, hypogonadism, renal abnormalities, and mental retardation, is a rare autosomal recessive disorder. To date, 21 causative genes have been reported. Here we describe a Japanese BBS patient with a novel compound heterozygous mutation in TTC8. To the best of our knowledge, this is the first description of a BBS patient with a mutation in the TTC8 gene in Japan. More... »

PAGES

14

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/s41439-019-0045-y

DOI

http://dx.doi.org/10.1038/s41439-019-0045-y

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1112764079

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/30886724


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