Spinal cerebrotendinous xanthomatosis: A case report and literature review

by Isis Atallah, Diego San Millán, Wicki Benoît, Belinda Campos-Xavier, Andrea Superti-Furga, Christel Tran
Published 2021-03-01

Elevated lactate in Mauriac syndrome: still a mystery

by Brice Touilloux, Henri Lu, Belinda Campos-Xavier, Andrea Superti-Furga, Michael Hauschild, Thérèse Bouthors, Christel Tran
Published 2021-08-01

Correction to: Elevated lactate in Mauriac syndrome: still a mystery

by Brice Touilloux, Henri Lu, Belinda Campos-Xavier, Andrea Superti-Furga, Michael Hauschild, Thérèse Bouthors, Christel Tran
Published 2021-09-01

The Connective Tissue Disorder Associated with Recessive Variants in the <i>SLC39A13</i> Zinc Transporter Gene (Spondylo-Dysplastic Ehlers–Danlos Syndrome Type 3): Insights from Fo...

by Camille Kumps, Belinda Campos-Xavier, Yvonne Hilhorst-Hofstee, Carlo Marcelis, Marius Kraenzlin, Nicole Fleischer, Sheila Unger, Andrea Superti-Furga
Published 2020-04-01

Classical homocystinuria, is it safe to exercise?

by Aurel T. Tankeu, Geraldine Van Winckel, Belinda Campos-Xavier, Olivier Braissant, Rosette Pedro, Andrea Superti-Furga, Francesca Amati, Christel Tran
Published 2021-06-01

Agenesis of the Corpus Callosum with Facial Dysmorphism and Intellectual Disability in Sibs Associated with Compound Heterozygous <i>KDM5B</i> Variants

by Sébastien Lebon, Mathieu Quinodoz, Virginie G. Peter, Carole Gengler, Gaëlle Blanchard, Viviane Cina, Belinda Campos-Xavier, Carlo Rivolta, Andrea Superti-Furga
Published 2021-09-01

Peripheral neuropathy and cognitive impairment associated with a novel monoallelic HARS variant

by Béryl Royer‐Bertrand, Pinelopi Tsouni, Patrick Mullen, Belinda Campos Xavier, Lauréane Mittaz Crettol, Alexander J. Lobrinus, Joseph Ghika, Matthias R. Baumgartner, Carlo Rivolta, Andrea Superti‐Furga, Thierry Kuntzer, Christopher Francklyn, Christel Tran
Published 2019-06-01

Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-<i>B4GALT7</i> and Spondylodysplastic-EDS-<i>B3GALT6</i>

by Stefano Giuseppe Caraffi, Ilenia Maini, Ivan Ivanovski, Marzia Pollazzon, Sara Giangiobbe, Maurizia Valli, Antonio Rossi, Silvia Sassi, Silvia Faccioli, Maja Di Rocco, Cinzia Magnani, Belinda Campos-Xavier, Sheila Unger, Andrea Superti-Furga, Livia Garavelli
Published 2019-10-01

Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome.

by Margot E Bowen, Eric D Boyden, Ingrid A Holm, Belinda Campos-Xavier, Luisa Bonafé, Andrea Superti-Furga, Shiro Ikegawa, Valerie Cormier-Daire, Judith V Bovée, Twinkal C Pansuriya, Sérgio B de Sousa, Ravi Savarirayan, Elena Andreucci, Miikka Vikkula, Livia Garavelli, Caroline Pottinger, Toshihiko Ogino, Akinori Sakai, Bianca M Regazzoni, Wim Wuyts, Luca Sangiorgi, Elena Pedrini, Mei Zhu, Harry P Kozakewich, James R Kasser, Jon G Seidman, Kyle C Kurek, Matthew L Warman
Published 2011-04-01