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10.1002/ajmg.a.33416 http://scihub22266oqcxt.onion/10.1002/ajmg.a.33416 C4048012!4048012!20503315     free     free     free Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Am+J+Med+Genet+A 2010 ; ä (6): 1411-9 Nephropedia Template TP {{tp|p=20503315|t=2010. Co-Occurrence of Joubert Syndrome and Jeune Asphyxiating Thoracic Dystrophy |pdf=|usr=}}{{20503315}} gab.com Text Co-Occurrence of Joubert Syndrome and Jeune Asphyxiating Thoracic Dystrophy JO: Am J Med Genet A http://www.kidney.de/pget.php?&tw=1&pmid=20503315 #FOAvip Ciliary disorders share typical features, such as polydactyly, renal and biliary cystic dysplasia, and retinitis pigmentosa, which often overlap across diagnostic entities. We report on two siblings of consanguineous parents and two unrelated children, both of unrelated parents, with co-occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy, an association that adds to the observation of common final patterns of malformations in ciliary disorders. Using homozygosity mapping in the siblings, we were able to exclude all known genes/loci for both syndromes except for INVS, AHI1, and three genes from the previously described Jeune locus at 15q13. No pathogenic variants were found in these genes by direct sequencing. In the third child reported, sequencing of RPGRIP1L, ARL13B, AHI1, TMEM67, OFD1, CC2D2A, and deletion analysis of NPHP1 showed no mutations. Although this study failed to identify a mutation in the patients tested, the co-occurrence of Joubert and Jeune syndromes is likely to represent a distinct entity caused by mutations in a yet to be discovered gene. The mechanisms by which certain organ systems are affected more than others in the spectrum of ciliary diseases remain largely unknown. Twit Text FOAVip Co-Occurrence of Joubert Syndrome and Jeune Asphyxiating Thoracic Dystrophy ????Am J Med Genet A http://www.kidney.de/pget.php?&tw=1&pmid=20503315 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=20503315 #FOAvip English Wikipedia <ref>{{Cite pmid|20503315}}</ref> Co-Occurrence of Joubert Syndrome and Jeune Asphyxiating Thoracic Dystrophy #MMPMID20503315 Lehman A; Eydoux P; Doherty D; Glass I; Chitayat D; Chung B; Langlois S; Yong S; Lowry R; Hildebrandt F; Trnka P Am J Med Genet A 2010[Jun]; ä (6): 1411-9 PMID20503315show ga Ciliary disorders share typical features, such as polydactyly, renal and biliary cystic dysplasia, and retinitis pigmentosa, which often overlap across diagnostic entities. We report on two siblings of consanguineous parents and two unrelated children, both of unrelated parents, with co-occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy, an association that adds to the observation of common final patterns of malformations in ciliary disorders. Using homozygosity mapping in the siblings, we were able to exclude all known genes/loci for both syndromes except for INVS, AHI1, and three genes from the previously described Jeune locus at 15q13. No pathogenic variants were found in these genes by direct sequencing. In the third child reported, sequencing of RPGRIP1L, ARL13B, AHI1, TMEM67, OFD1, CC2D2A, and deletion analysis of NPHP1 showed no mutations. Although this study failed to identify a mutation in the patients tested, the co-occurrence of Joubert and Jeune syndromes is likely to represent a distinct entity caused by mutations in a yet to be discovered gene. The mechanisms by which certain organ systems are affected more than others in the spectrum of ciliary diseases remain largely unknown. äCo-Occurrence of Joubert Syndrome and Jeune Asphyxiating Thoracic Dyst(epmc).pdf DeepDyve Pubget Overpricing