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Brachytelephalangic chondrodysplasia punctata with distinctive phenotype and normal karyotype

1998; Wiley; Volume: 76; Issue: 3 Linguagem: Inglês

10.1002/(sici)1096-8628(19980319)76

1096-8628

Ján Žižka, J. Charvat, A Baxová, P Balícek, K Kozłowski,

MicroRNA in disease regulation

We present two sibs with a distinctive phenotype and with stippled calcifications of the tarsal bones and sacro-coccygeal spine. They represent an apparently “new” form of chondrodysplasia punctata. Am. J. Med. Genet. 76:213–216, 1998. © 1998 Wiley-Liss, Inc.