The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): A review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals

Segarra, Nuria Garcia; Mittaz, Laureane; Campos-Xavier, Ana Belinda; Bartels, Cynthia F.; Tuysuz, Beyhan; Alanay, Yasemin; Cimaz, Rolando; Cormier-Daire, Valerie; Di Rocco, Maja; Duba, Hans-Christoph; Elcioglu, Nursel H.; Forzano, Francesca; Hospach, Toni; Kilic, Esra; Kuemmerle-Deschner, Jasmin B.; Mortier, Geert; Mrusek, Sonja; Nampoothiri, Sheela; Obersztyn, Ewa; Pauli, Richard M.; Selicorni, Angelo; Tenconi, Romano; Unger, Sheila; Utine, G. Eda; Wright, Michael; Zabel, Bernhard; Warman, Matthew L.; Superti-Furga, Andrea; Bonafe, Luisa

The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): A review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals

Autor(en):

Segarra, Nuria Garcia; Mittaz, Laureane; Campos-Xavier, Ana Belinda; Bartels, Cynthia F.; Tuysuz, Beyhan; Alanay, Yasemin; Cimaz, Rolando; Cormier-Daire, Valerie; Di Rocco, Maja; Duba, Hans-Christoph; Elcioglu, Nursel H.; Forzano, Francesca; Hospach, Toni; Kilic, Esra; Kuemmerle-Deschner, Jasmin B.; Mortier, Geert; Mrusek, Sonja; Nampoothiri, Sheela; Obersztyn, Ewa; Pauli, Richard M.; Selicorni, Angelo; Tenconi, Romano; Unger, Sheila; Utine, G. Eda; Wright, Michael; Zabel, Bernhard; Warman, Matthew L.; Superti-Furga, Andrea; Bonafe, Luisa

Tübinger Autor(en):

Kümmerle-Deschner, Jasmin

Erschienen in:

American Journal of Medical Genetics Part C - Seminars in Medical Genetics (2012), Bd. 160C, H. SI, S. 217-229

Verlagsangabe:

Wiley - Blackwell

Sprache:

Englisch

Referenz zum Volltext:

http://dx.doi.org/10.1002/ajmg.c.31333

ISSN:

1552-4868