Bardet–Biedl syndrome in two unrelated patients with identical compound heterozygous SCLT1 mutations

Bardet–Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy characterized by retinitis pigmentosa (RP), truncal obesity, cognitive impairment, hypogonadism in men, polydactyly, and renal abnormalities with severe renal dysfunction. Twenty-two causative genes have already been reported for t...

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Bibliografiska uppgifter
I publikationen:CEN Case Rep
Huvudupphovsmän: Morisada, Naoya, Hamada, Riku, Miura, Kenichiro, Ye, Ming Juan, Nozu, Kandai, Hattori, Motoshi, Iijima, Kazumoto
Materialtyp: Artigo
Språk:Inglês
Publicerad: Springer Singapore 2020
Ämnen:
Case Report
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC7320120/
https://ncbi.nlm.nih.gov/pubmed/32253632
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s13730-020-00472-y
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