A novel homozygous Arg222Trp missense mutation in WNT7A in two sisters with severe Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome

by Piranit N. Kantaputra, Stefan Mundlos, Warissara Sripathomsawat
Published 2018

Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q

by Piranit N. Kantaputra, Eva Klopocki, Bianca P. Hennig, Verayuth Praphanphoj, Cédric Le Caignec, Bertrand Isidor, Mei L. Kwee, Deborah J. Shears, Stefan Mundlos
Published 2018