Long-term survival in infantile malignant autosomal recessive osteopetrosis secondary to homozygous p.Arg526Gln mutation in CLCN7

• Main Authors: Kantaputra,P.N.I., Thawanaphong,S., Issarangporn,W., Klangsinsirikul,P., Ohazama,A., Sharpe,P.T., Supanchart,C.
• Format: Article
• Published: Wiley-Liss Inc. 2015
• Subjects: Genetics (clinical); Genetics
• Online Access: http://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&scp=84859003377&origin=inward; http://cmuir.cmu.ac.th/handle/6653943832/38098
• Institution: Chiang Mai University

Infantile malignant autosomal recessive osteopetrosis (ARO; OMIM 259700) has been reported to be associated with mutations in TCIRG1, CLCN7, or OSTM1. ARO caused by homozygous (or compound heterozygous) mutations in CLCN7, as described here, is usually diagnosed at birth or early in infancy due to g...