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Article

Recurrent ctb(7)(q31.3) and possible laminin involvement in a neonatal cutis laxa with a Marfan phenotype.

Human genetics - 1 Jul 1991

Bonneau D, Huret J L, Godeau G, Couet D, Putterman M, Tanzer J, Babin P, Larrègue M

Abstract excerpt

A 6-week-old girl presented with cutis laxa, emphysema, heart anomalies and a diaphragmatic hernia. She died at 22 weeks. A recurrent ctb(7)(q31.3) was found and the laminin gene was suspected to be involved in the disease. Anti-human laminin antiserum showed that this protein was absent from the...

Topics

Cells, Cultured
Chromosomes, Human, Pair 7
Cutis Laxa
Female
Humans
Immunoenzyme Techniques
Infant
Karyotyping
Laminin
Marfan Syndrome
Phenotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 1864606
DOI: 10.1007/BF00200911

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-1864606-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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