Homozygous SMAD6 variants in two unrelated patients with craniosynostosis and radioulnar synostosis

Bron
Journal of medical genetics - ISSN 0022-2593- (2024) p. 1-6
Auteur(s)

RUNX2-related metaphyseal dysplasia with maxillary hypoplasia : a rare skeletal disorder resembling SFRP4-related Pyle disease

Bron
Clinical genetics - ISSN 0009-9163- (2023) p. 1-6
Auteur(s)

Genetic association analysis of 77,539 genomes reveals rare disease etiologies

Bron
Nature medicine - ISSN 1078-8956-29 (2023) p. 679-688
Auteur(s)
    Daniel Greene, Daniela Pirri, Karen Frudd, Ege Sackey, Mohammed Al-Owain, Arnaud P.J. Giese, Khushnooda Ramzan, Sehar Riaz, Itaru Yamanaka, Nele Boeckx, Chantal Thys, Bruce Gelb, Paul Brennan, Verity Hartill, Julie Harvengt, Tomoki Kosho, Sahar Mansour, Mitsuo Masuno, Takako Ohata, Helen Stewart, Khalid Taibah, Claire L.S. Turner, Faiqa Imtiaz, Saima Riazuddin, Takayuki L. Morisaki, Pia Ostergaard, Bart Loeys, Hiroko M. Morisaki, Zubair Ahmed, Graeme Birdsey, Kathleen Freson, Andrew Mumford, Ernest Turro

Heterozygous pathogenic variants involving CBFB cause a new skeletal disorder resembling cleidocranial dysplasia

Bron
Journal of medical genetics - ISSN 0022-2593-60 (2023) p. 498-504
Auteur(s)
    Tessi Beyltjens, Eveline Boudin, Nicole Revencu, Nele Boeckx, Miriam Bertrand, Leon Schuetz, Tobias B. Haack, Axel Weber, Eleni Biliouri, Mateja Vinksel, Anja Zagozen, Borut Peterlin, Shashidhar Pai, Aida Telegrafi, Lindsay B. Henderson, Courtney Ells, Lesley Turner, Wim Wuyts, Wim Van Hul, Gretl Hendrickx, Geert Mortier