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First report in Argentina of a pathogenic DMP1 variant associated with autosomal recessive hypophosphatemic rickets.

Archivos argentinos de pediatria - 1 Apr 2023

Bastida Gabriela, Ramírez Flavia, Exeni Georgina, Costa Mailén, Ávila Silvia A

Abstract excerpt

Hereditary hypophosphatemic rickets is a genetic condition associated with impaired bone mineralization caused by phosphate deficiency. It results in skeletal deformity and growth retardation in early childhood. Different inheritance patterns have been described according to the locus involved. Given the phenotypic overlapping and the difficulty in analyzing reduced genealogies, molecular studies are important to...

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PMID: 36315908
DOI: 10.5546/aap.2022-02682.eng

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