The clinical application of single-sperm-based SNP haplotyping for PGD of osteogenesis imperfecta
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DOI: 10.1080/19396368.2018.1472315
Abstract: ABSTRACT Osteogenesis imperfecta (OI) is a genetically heterogeneous disorder, presenting either autosomal dominant, autosomal recessive or X-linked inheritance patterns. The majority of OI cases are autosomal dominant and are caused by heterozygous mutations in either… read more here.
Keywords: snp haplotyping; pgd; sperm; single sperm ... See more keywords