The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function

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Human mutation - ISSN 1059-7794-40:3 (2019) p. 299-309
Auteur(s)
    Katta M. Girisha, Leonie von Elsner, Kausthubham Neethukrishna, Mamta Muranjan, Anju Shukla, Gandham SriLakshmi Bhavani, Gen Nishimura, Kerstin Kutsche, Geert Mortier

An emerging ribosomopathy affecting the skeleton due to biallelic variations in NEPRO

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American journal of medical genetics : part A - ISSN 1552-4825-179:9 (2019) p. 1709-1717
Auteur(s)
    Dhanya L. Narayanan, Anju Shukla, Neethukrishna Kausthubham, Gandham S. Bhavani, Hitesh Shah, Geert Mortier, Katta M. Girisha

Bi-allelic loss-of-function mutations in the NPR-C receptor result in enhanced growth and connective tissue abnormalities

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The American journal of human genetics - ISSN 0002-9297-103:2 (2018) p. 288-295
Auteur(s)

Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta

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Human molecular genetics - ISSN 0964-6906-24:11 (2015) p. 3038-3049
Auteur(s)
    Mathilde Huckert, Corinne Stoetzel, Supawich Morkmued, Virginie Laugel-Haushalter, Veronique Geoffroy, Jean Muller, Francois Clauss, Megana K. Prasad, Frederic Obry, Jean Louis Raymond, Marzena Switala, Yves Alembik, Sylvie Soskin, Eric Mathieu, Joseph Hemmerle, Jean-Luc Weickert, Branka Brukner Dabovic, Daniel B. Rifkin, Annelies Dheedene, Eveline Boudin, Oana Caluseriu, Marie-Claude Cholette, Ross Mcleod, Reynaldo Antequera, Marie-Paule Gelle, Jean-Louis Coeuriot, Louis-Frederic Jacquelin, Isabelle Bailleul-Forestier, Marie-Cecile Maniere, Wim Van Hul, Debora Bertola, Pascal Dolle, Alain Verloes, Geert Mortier, Helene Dollfus, Agnes Bloch-Zupan