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Platyspondylic lethal dysplasia torrance type with a heterozygous mutation in the triple helical domain of COL2A1 in two sibs from phenotypically normal parents

✍ Scribed by Toshio Okamoto; Ken Nagaya; Hiroko Asai; Etsushi Tsuchida; Fumikatsu Nohara; Tokitsugi Hayashi; Akiko Yamashita; Gen Nishimura; Hiroshi Azuma

Book ID: 111995307
Publisher: John Wiley and Sons
Year: 2012
Tongue: English
Weight: 143 KB
Volume: 158A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.35509

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