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Article

Are the nail-patella syndrome and the autosomal Goltz-like syndrome the phenotypic expressions of different alleles at the COL5A1 locus?

Human genetics - 1 Mar 1993

Ghiggeri G M, Caridi G, Altieri P, Pezzolo A, Gimelli G, Zuffardi O

Abstract excerpt

The COL5A1 gene, which encodes the pro alpha 1(V) chain, was recently mapped to 9q34.3 in the same region as the nail-patella locus. This was taken as an indication that the nail-patella syndrome may be an inherited connective tissue disorder. We demonstrate COL5A1 heterozygous deletion and fibro...

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PMID: 8462976
DOI: 10.1007/BF00222720

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-8462976-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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