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5. Phenotypic and mutational spectrum of ROR2-related Robinow syndrome. Lima AR; Ferreira BM; Zhang C; Jolly A; Du H; White JJ; Dawood M; Lins TC; Chiabai MA; van Beusekom E; Cordoba MS; Caldas Rosa ECC; Kayserili H; Kimonis V; Wu E; Mellado C; Aggarwal V; Richieri-Costa A; Brunoni D; Canó TM; Jorge AAL; Kim CA; Honjo R; Bertola DR; Dandalo-Girardi RM; Bayram Y; Gezdirici A; Yilmaz-Gulec E; Gumus E; Yilmaz GC; Okamoto N; Ohashi H; Coban-Akdemir Z; Mitani T; Jhangiani SN; Muzny DM; Regattieri NAP; Pogue R; Pereira RW; Otto PA; Gibbs RA; Ali BR; van Bokhoven H; Brunner HG; Sutton VR; Lupski JR; Vianna-Morgante AM; Carvalho CMB; Mazzeu JF Hum Mutat; 2022 Jul; 43(7):900-918. PubMed ID: 35344616 [TBL] [Abstract][Full Text] [Related]
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8. DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome. White JJ; Mazzeu JF; Hoischen A; Bayram Y; Withers M; Gezdirici A; Kimonis V; Steehouwer M; Jhangiani SN; Muzny DM; Gibbs RA; ; van Bon BWM; Sutton VR; Lupski JR; Brunner HG; Carvalho CMB Am J Hum Genet; 2016 Mar; 98(3):553-561. PubMed ID: 26924530 [TBL] [Abstract][Full Text] [Related]
9. Clinical and molecular characterization of four patients with Robinow syndrome from different families. Rai A; Patil SJ; Srivastava P; Gaurishankar K; Phadke SR Am J Med Genet A; 2021 Apr; 185(4):1105-1112. PubMed ID: 33496066 [TBL] [Abstract][Full Text] [Related]
10. Biallelic loss-of-function WNT5A mutations in an infant with severe and atypical manifestations of Robinow syndrome. Birgmeier J; Esplin ED; Jagadeesh KA; Guturu H; Wenger AM; Chaib H; Buckingham JA; Bejerano G; Bernstein JA Am J Med Genet A; 2018 Apr; 176(4):1030-1036. PubMed ID: 29575631 [TBL] [Abstract][Full Text] [Related]
11. One gene, two phenotypes: ROR2 mutations in autosomal recessive Robinow syndrome and autosomal dominant brachydactyly type B. Afzal AR; Jeffery S Hum Mutat; 2003 Jul; 22(1):1-11. PubMed ID: 12815588 [TBL] [Abstract][Full Text] [Related]
12. Ror2 knockout mouse as a model for the developmental pathology of autosomal recessive Robinow syndrome. Schwabe GC; Trepczik B; Süring K; Brieske N; Tucker AS; Sharpe PT; Minami Y; Mundlos S Dev Dyn; 2004 Feb; 229(2):400-10. PubMed ID: 14745966 [TBL] [Abstract][Full Text] [Related]