A novel splice site mutation in anthrax toxin receptor 2 (Capillary morphogenesis protein 2) gene results in systemic hyalinosis

• मुख्य लेखकों: Indhra Priyadharshini (लेखक), Sirisha Varala (लेखक), Tallapaka Karthik Bharadwaj (लेखक), Ananthula Venkata Krishna (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: Wolters Kluwer Medknow Publications, 2022-01-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: Connect to this object online.

Infantile Systemic Hyalinosis, now included under the unifying term, "hyaline fibromatosis syndrome" (HFS) is a rare, progressive and fatal autosomal recessive disorder characterized by various dermatological manifestations such as thickened skin, papules and nodules, hyperpigmentation ove...