Novel Mutations Including Deletions of the Entire OFD1 Gene in 30 Families with Type 1 Orofaciodigital Syndrome: A Study of the Extensive Clinical Variability

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Novel Mutations Including Deletions of the Entire OFD1 Gene in 30 Families with Type 1 Orofaciodigital Syndrome: A Study of the Extensive Clinical Variability

Author: Bisschoff, Izak J.; Zeschnigk, Christine; Horn, Denise; Wellek, Brigitte; Riess, Angelika; Wessels, Maja; Willems, Patrick; Jensen, Peter; Busche, Andreas; Bekkebraten, Jens; Chopra, Maya; Hove, Hanne Dahlgaard; Evers, Christina; Heimdal, Ketil; Kaiser, Ann-Sophie; Kunstmann, Erdmut; Robinson, Kristina Lagerstedt; Linne, Maja; Martin, Patricia; McGrath, James; Pradel, Winnie; Prescott, Katrina E.; Roesler, Bernd; Rudolf, Gorazd; Siebers-Renelt, Ulrike; Tyshchenko, Nataliya; Wieczorek, Dagmar; Wolff, Gerhard; Dobyns, William B.; Morris-Rosendahl, Deborah J.
Tübinger Autor(en):
Rieß, Angelika
Published in: Human Mutation (2013), Bd. 34, H. 1, S. 237-247
Verlagsangabe: Wiley - Blackwell
Language: English
Full text: http://dx.doi.org/10.1002/humu.22224
ISSN: 1059-7794
DDC Classifikation: 570 - Life sciences; biology
610 - Medicine and health
Dokumentart: Artikel
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