Lipoid proteinosis in a six-year-old child

• Prif Awduron: Surajit Nayak (Awdur), Basanti Acharjya (Awdur)
• Fformat: Llyfr
• Cyhoeddwyd: Wolters Kluwer Medknow Publications, 2012-01-01T00:00:00Z.
• Pynciau: article
• Mynediad Ar-lein: Connect to this object online.

Lipoid proteinosis (LiP) (OMIM 247100) is a rare autosomal recessive disease caused by loss of function mutations in the extracellular matrix protein 1 gene, ECM1, on chromosome 1q21. Clinically characterized by hoarseness in early infancy, followed by waxy papules and plaques on the face and body a...