论文信息 - Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1 - 字舞流文

Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1

Rosamund Hill | S. Robertson | J. C. Jacobsen | R. Snell | E. Glamuzina | D. Love | Callum Wilson | M. Fietz | K. Lehnert | Juliet Taylor | T. van Dijk | B. Appelhof | Rosemary Marks | Shona Handisides | B. Swan