One in a billion: a patient with Marfan syndrome and familial hypocalciuric hypercalcaemia
Marfan syndrome is an autosomal dominant multisystem disorder that has an estimated incidence of 1 in 5000. It is caused by mutations in the FBN1 gene, which encodes the extracellular matrix protein type 1 fibrillin. Familial hypocalciuric hypercalcaemia (FHH), also inherited in an autosomal dominan...
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| Principais autores: | , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Bioscientifica
2021-06-01
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| coleção: | Endocrinology, Diabetes & Metabolism Case Reports |
| Acesso em linha: | https://edm.bioscientifica.com/view/journals/edm/2021/1/EDM21-0024.xml |
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