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An infant with cartilage-hair hypoplasia due to a novel homozygous mutation in the promoter region of the RMRP gene associated with chondrodysplasia and severe immunodeficiency - Case report
An infant with cartilage-hair hypoplasia due to a novel homozygous mutation in the promoter region of the RMRP gene associated with chondrodysplasia and severe immunodeficiency - Case report
An infant with cartilage-hair hypoplasia due to a novel homozygous mutation in the promoter region of the RMRP gene associated with chondrodysplasia and severe immunodeficiency - Case report
Vatanavicharn, N. (author) / Visitsunthorn, N. (author) / Pho-iam, T. (author) / Jirapongsananuruk, O. (author) / Pacharn, P. (author) / Chokephaibulkit, K. (author) / Limwongse, C. (author) / Wasant, P. (author)
JOURNAL OF APPLIED GENETICS ; 51 ; 523-528
2010-01-01
6 pages
Article (Journal)
English
DDC:
576.5
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