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Article

Primary hyperoxaluria type 1 and brachydactyly mental retardation syndrome caused by a novel mutation in AGXT and a terminal deletion of chromosome 2.

American journal of medical genetics. Part A - 1 Sept 2012

Tammachote Rachaneekorn, Kingsuwannapong Nelawat, Tongkobpetch Siraprapa, Srichomthong Chalurmpon, Yeetong Patra, Kingwatanakul Pornchai, Monico Carla G, Suphapeetiporn Kanya, Shotelersuk Vorasuk

Abstract excerpt

Primary hyperoxaluria type 1 (PH1) is an autosomal recessive disorder caused by mutations in the alanine:glyoxylate aminotransferase (AGXT) gene, located on chromosome 2q37. Mutant AGXT leads to excess production and excretion of oxalate, resulting in accumulation of calcium oxalate in the kidney...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22821680
DOI: 10.1002/ajmg.a.35495

Genes

AGXT
HDAC4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22821680-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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