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Article

Tumoral calcinosis due to GALNT3 C.516-2A >T mutation in a black African family.

Genetic counseling (Geneva, Switzerland) - 1 Jan 2008

Laleye A, Alao M J, Gbessi G, Adjagba M, Marche M, Coupry I, Redonnet-Vernhet I, Lepreux S, Ayivi B, Darboux R B, Lacombe D, Arveiler B

Abstract excerpt

Familial Tumoral Calcinosis (FTC) is a rare autosomal recessive disorder of the phosphocalcic metabolism caused by mutations in the FGF23 or GALNT3 genes. We have identified a Beninese family in which two brothers present FTC caused by a homozygous A>T transversion at the acceptor splice site in intron 1 of GALNT3 gene. We report on the clinical, biochemical, histopathological and molecular spectrum of the...

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Source

Identifiers

PMID: 18618993

Genes

GALNT3
FGF23

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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