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Article

Skeletal impairment in Pierson syndrome: Is there a role for lamininβ2 in bone physiology?

Bone - 1 Jan 2018

Beaufils Camille, Farlay Delphine, Machuca-Gayet Irma, Fassier Alice, Zenker Martin, Freychet Caroline, Bonnelye Edith, Bertholet-Thomas Aurélia, Ranchin Bruno, Bacchetta Justine

Abstract excerpt

INTRODUCTION: Pierson syndrome is caused by a mutation of LAMB2, encoding for laminin β2. Clinical phenotype is variable but usually associates congenital nephrotic syndrome (CNS) and ocular abnormalities. Neuromuscular impairment has also been described. METHODS: We report on a 15-year old girl, suffering from Pierson Syndrome, who developed severe bone deformations during puberty. This patient initially...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29051055
DOI: 10.1016/j.bone.2017.10.015

Genes

LAMB2
PTH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

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Skeletal impairment in Pierson syndrome: Is there a role for lamininβ2 in bone physiology?PMID 29051055Read ↗

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