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Article

Renal findings in patients with Mulibrey nanism.

Pediatric nephrology (Berlin, Germany) - 1 Sept 2017

Sivunen Johanna, Karlberg Susann, Lohi Jouko, Karlberg Niklas, Lipsanen-Nyman Marita, Jalanko Hannu

Abstract excerpt

BACKGROUND: Mulibrey nanism (MUL) is a rare inherited disease caused by genetic defects affecting peroxisomal TRIM37 protein. MUL affects multiple organs, leading to growth retardation and early onset type 2 diabetes. We aimed to characterize the structure and function of kidneys and the urinary tract in a large cohort of Finnish MUL patients. METHODS: Ultrasound, magnetic resonance imaging (MRI), and autopsy...

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Source

Identifiers

PMID: 28432469
DOI: 10.1007/s00467-017-3669-5

Genes

TRIM37
FGF1

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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