A novel splice site mutation in anthrax toxin receptor 2 (Capillary morphogenesis protein 2) gene results in systemic hyalinosis
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...
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| Main Authors: | , , , |
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| Format: | Book |
| Published: |
Wolters Kluwer Medknow Publications,
2022-01-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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