- Clinical and Molecular Study of the Extracellular Matrix Protein 1 Gene in a Spanish Family with Lipoid Proteinosis
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Mondejar R, Garcia-Moreno JM, Rubio R, Solano F, Delgado M, Garcia-Bravo B, Rios-Martin JJ, Martinez-Mir A, Lucas M
- KMID: 2400178
- J Clin Neurol.
- 2014 Jan;10(1):64-68.
BACKGROUND: Lipoid proteinosis (LP) is a rare autosomal recessive disorder characterized by a hoarse voice, variable scarring, and infiltration of the skin and mucosa. This disease is associated with mutations... -
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