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Hereditary Cutis Laxa with Mutations in FBLN5 (Fibulin) and Abnormalities in the Pulmonary Function and Connective Tissu

Specialty:

Dermatology

Objective:

ICD-10:

Description:

Hereditary mutations in FBLN5 (fibulin) can result in a connective tissue disorder that can affect multiple organs. Fibulin is an extracellular matrix protein, and mutations in its structure can result in changes to the microfibrillar component of elastic fibers.

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