One in a billion: a patient with Marfan syndrome and familial hypocalciuric hypercalcaemia

SUMMARY: 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 autosoma...

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Detalles Bibliográficos
Autores principales: Ann Tee, Su, Brennan, Paul, L Mitchell, Anna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2021
Materias:
New Disease or Syndrome: Presentations/Diagnosis/Management
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8240724/
https://www.ncbi.nlm.nih.gov/pubmed/34152285
http://dx.doi.org/10.1530/EDM-21-0024

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8240724/
https://www.ncbi.nlm.nih.gov/pubmed/34152285
http://dx.doi.org/10.1530/EDM-21-0024

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