Infantile Systemic Hyalinosis: Novel Founder Mutation in the Initiation Codon among 'Malis (Farmers)' in Jodhpur
| العنوان: | Infantile Systemic Hyalinosis: Novel Founder Mutation in the Initiation Codon among 'Malis (Farmers)' in Jodhpur |
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| المؤلفون: | Ratna Dua Puri, Kapil Jetha, Monika Chaudhary, I. C. Verma, Gandham SriLakshmi Bhavani, Sudha Kohli, Jai Prakash Soni |
| المصدر: | The Indian Journal of Pediatrics. 83:1341-1345 |
| بيانات النشر: | Springer Science and Business Media LLC, 2016. |
| سنة النشر: | 2016 |
| مصطلحات موضوعية: | 0301 basic medicine, Pathology, medicine.medical_specialty, Receptors, Peptide, Infantile systemic hyalinosis, Codon, Initiator, Hyalinosis, Systemic, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, Start codon, medicine, Humans, Child, Founder mutation, Hyaline, Genetics, ANTXR2 gene, Farmers, business.industry, Chromosome, medicine.disease, 030104 developmental biology, Gingival Hypertrophy, Mutation, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), business |
| الوصف: | 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 clinical features, and four died from severe infections between age of 7 mo to 3 y. Two affected children had the same, but novel mutation in the initiation codon, in homozygous form c.1 A > G; p. M1? in capillary morphogenesis protein-2 (CMG2), or ANTXR2 gene on chromosome 4q21.21. The other two parents had the same mutation in heterozygous form. It is likely that this is a founder mutation in this community. |
| تدمد: | 0973-7693 0019-5456 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9db9861da2ef2200f8287a0eea8ed581 https://doi.org/10.1007/s12098-016-2218-8 |
| حقوق: | CLOSED |
| رقم الأكسشن: | edsair.doi.dedup.....9db9861da2ef2200f8287a0eea8ed581 |
| قاعدة البيانات: | OpenAIRE |
Find this article in full text from Springer Verlag. | تدمد: | 09737693 00195456 |
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