Novel compound heterozygous mutations in SERPINH1 cause rare autosomal recessive osteogenesis imperfecta type X
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DOI: 10.1007/s00198-018-4448-2
Abstract: SummaryWe identified novel compound heterozygous mutations in SERPINH1 in a Chinese boy suffering from recurrent fractures, femoral deformities, and growth retardation, which resulted in extremely rare autosomal recessive OI type X. Long-term treatment of BPs… read more here.
Keywords: mutations serpinh1; novel compound; heterozygous mutations; type ... See more keywords