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Novel compound heterozygous mutations in DYNC2H1 in a patient with severe short-rib polydactyly syndrome type III phenotype
Okamoto, Toshio, Nagaya, Ken, Kawata, Yumi, Asai, Hiroko, Tsuchida, Etsushi, Nohara, Fumikatsu, Okajima, Kazuki, Azuma, HiroshiVolume:
55
Language:
english
Journal:
Congenital Anomalies
DOI:
10.1111/cga.12098
Date:
August, 2015
File:
PDF, 431 KB
english, 2015