Familial tumoral calcinosis: a rare autosomal recessive disease.

Humans Calcinosis / genetics Hyperphosphatemia / genetics Male Female Fibroblast Growth Factor-23 Hyperostosis, Cortical, Congenital
Endocrinology Genetics

Journal

BMJ case reports
ISSN: 1757-790X
Titre abrégé: BMJ Case Rep
Pays: England
ID NLM: 101526291

Informations de publication

Date de publication:
11 Oct 2024
Historique:
medline: 13 10 2024
pubmed: 13 10 2024
entrez: 12 10 2024
Statut: epublish

Résumé

Familial tumoral calcinosis (FTC) is a rare autosomal recessive disorder where renal tubular phosphate excretion is decreased in the absence of renal failure. The underlying defect is due to inactivating mutations in the

Identifiants

DOI: 10.1136/bcr-2023-259455 PMID: 39395830
pubmed: 39395830
pii: 17/10/e259455
doi: 10.1136/bcr-2023-259455
pii:
doi:

Substances chimiques

Fibroblast Growth Factor-23 7Q7P4S7RRE

Types de publication

Case Reports Journal Article

Langues

eng

Sous-ensembles de citation

IM

Informations de copyright

© BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ.

Déclaration de conflit d'intérêts

Competing interests: None declared.

Auteurs

Heberth Moran (H)

Endocrinology, Rutgers New Jersey Medical School, Newark, New Jersey, USA hm650@njms.rutgers.edu.

Monique Malvar (M)

Endocrinology, Rutgers New Jersey Medical School, Newark, New Jersey, USA.

Simge Yuksel (S)

Endocrinology, Rutgers New Jersey Medical School, Newark, New Jersey, USA.

David Bleich (D)

Endocrinology, Rutgers New Jersey Medical School, Newark, New Jersey, USA.

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Familial tumoral calcinosis: a rare autosomal...
questionsmedicales.fr › Maladies métaboliques et nutritionnelles › Maladies métaboliques › Troubles du métabolisme du calcium › Calcinose › Familial tumoral calcinosis: a rare autosomal...
questionsmedicales.fr › Maladies métaboliques et nutritionnelles › Maladies métaboliques › Troubles du métabolisme du phosphore › Hyperphosphatémie › Familial tumoral calcinosis: a rare autosomal...
questionsmedicales.fr › Acides aminés, peptides et protéines › Peptides › Facteur-23 de croissance des fibroblastes › Familial tumoral calcinosis: a rare autosomal...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies néonatales › Hyperostose corticale infantile › Familial tumoral calcinosis: a rare autosomal...