Article
Infantile Systemic Hyalinosis: Novel Founder Mutation in the Initiation Codon among "Malis (Farmers)" in Jodhpur.
Indian journal of pediatrics - 1 Nov 2016
Soni Jai Prakash, Puri Ratna D, Jetha Kapil, Bhavani G S L, Chaudhary Monika, Kohli Sudha, Verma I C
Abstract excerpt
Infantile systemic hyalinosis (OMIM 236490) is a progressive autosomal recessive disorder characterized by widespread deposition of hyaline material in many tissues leading to multiple subcutaneous skin nodules, gingival hypertrophy and joint contractures. The authors describe five children from four unrelated families, from the "mali (farmer)" community in Jodhpur, with the disorder. All of them had classical...
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