An infant with cartilage-hair hypoplasia due to a novel homozygous mutation in the promoter region of theRMRPgene associated with chondrodysplasia and severe immunodeficiency
N. Vatanavicharn, N. Visitsunthorn, T. Pho-iam, O. Jirapongsananuruk, P. Pacharn, K. Chokephaibulkit, C. Limwongse, P. WasantVolume:
51
Language:
english
Pages:
6
DOI:
10.1007/bf03208884
Date:
December, 2010
File:
PDF, 259 KB
english, 2010