June 1, 1998Human Molecular Genetics

An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa

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Structured PICO

Population

1 patient with the rare autosomal dominant condition cutis laxa

Outcome

Identification of elastin gene mutation and its effect on tropoelastin and elastic fibressurrogate

Identified a novel frameshift mutation in the elastin gene causing autosomal dominant cutis laxa by producing abnormal tropoelastin that disrupts elastic fibre architecture.

Discussion

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Implication

May guide genetic testing in suspected cutis laxa; extends known elastin frameshifts but remains hypothesis-generating.

Cite This Study

Mayada Tassabehji (1998) studied this question.

synapsesocial.com/papers/6a89666641f4089922bd5955 https://doi.org/10.1093/hmg/7.6.1021

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An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa

Structured PICO

Discussion

Implication

Cite This Study

An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa

Structured PICO

Discussion

Implication

Cite This Study

Also Consider

Also Consider