Late diagnosis of Bardet-Biedl syndrome in an 18-year-old patient − a case report and literature review

Late diagnosis of Bardet-Biedl syndrome in an 18-year-old patient − a case report and literature review

Bardet-Biedl syndrome (BBS) is a rare, autosomal recessive multi-system ciliopathy. Its diagnosis is based on a constellation of characteristic clinical symptoms that appear in childhood, including kidney defects, obesity, retinal dystrophy, polydactyly, intellectual dysfunction, and hypogonadism....

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Bibliographic Details
Main Authors: Aleksandra Sobieszczańska-Droździel, Karolina Kalicka-Żuk, Beata Bieniaś
Format: Article
Language:English
Published: Termedia Publishing House 2022-03-01
Series:Pediatria Polska
Subjects:
obesity
polydactyly
ciliopathy
bardet-biedl syndrome.
Online Access:https://www.termedia.pl/Late-diagnosis-of-Bardet-Biedl-syndrome-in-an-18-year-old-patient-a-case-report-and-literature-review,127,46658,1,1.html

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https://www.termedia.pl/Late-diagnosis-of-Bardet-Biedl-syndrome-in-an-18-year-old-patient-a-case-report-and-literature-review,127,46658,1,1.html

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