A diagnostic conundrum in Bardet–Biedl syndrome: when genetic diagnosis precedes clinical diagnosis
Bardet–Biedl syndrome (BBS) is a rare, autosomal recessive, multisystem non-motile ciliopathy of progressive onset. It is primarily characterised by rod–cone dystrophy, early-onset obesity and related complications, postaxial polydactyly, renal and genitourinary abnormalities, learning disabilities,...
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| Үндсэн зохиолчид: | , , , , |
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| Формат: | Artigo |
| Хэл сонгох: | Inglês |
| Хэвлэсэн: |
Bioscientifica
2023-11-01
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| Цуврал: | Endocrinology, Diabetes & Metabolism Case Reports |
| Онлайн хандалт: | https://edm.bioscientifica.com/view/journals/edm/2023/4/EDM23-0055.xml |
| Шошгууд: |
Шошго байхгүй, Энэхүү баримтыг шошголох эхний хүн болох!
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