Article
Phenotypic and mutational spectrum of ROR2-related Robinow syndrome.
Human mutation - 1 Jul 2022
Lima Ariadne R, Ferreira Barbara M, Zhang Chaofan, Jolly Angad, Du Haowei, White Janson J, Dawood Moez, Lins Tulio C, Chiabai Marcela A, van Beusekom Ellen, Cordoba Mara S, Caldas Rosa Erica C C, Kayserili Hulya, Kimonis Virginia, Wu Erica, Mellado Cecilia, Aggarwal Vineet, Richieri-Costa Antonio, Brunoni Décio, Canó Talyta M, Jorge Alexander A L, Kim Chong A, Honjo Rachel, Bertola Débora R, Dandalo-Girardi Raissa M, Bayram Yavuz, Gezdirici Alper, Yilmaz-Gulec Elif, Gumus Evren, Yilmaz Gülay C, Okamoto Nobuhiko, Ohashi Hirofumi, Coban-Akdemir Zeynep, Mitani Tadahiro, Jhangiani Shalini N, Muzny Donna M, Regattieri Neysa A P, Pogue Robert, Pereira Rinaldo W, Otto Paulo A, Gibbs Richard A, Ali Bassam R, van Bokhoven Hans, Brunner Han G, Sutton V Reid, Lupski James R, Vianna-Morgante Angela M, Carvalho Claudia M B, Mazzeu Juliana F
Abstract excerpt
Robinow syndrome is characterized by a triad of craniofacial dysmorphisms, disproportionate-limb short stature, and genital hypoplasia. A significant degree of phenotypic variability seems to correlate with different genes/loci. Disturbances of the noncanonical WNT-pathway have been identified as the main cause of the syndrome. Biallelic variants in ROR2 cause an autosomal recessive form of the syndrome with...
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