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10.1016/j.ejmg.2017.02.004 http://scihub22266oqcxt.onion/10.1016/j.ejmg.2017.02.004 28246031!?!28246031 Warning: file_get_contents(https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&id=28246031&cmd=llinks): Failed to open stream: HTTP request failed! HTTP/1.1 429 Too Many Requests in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 215       Eur+J+Med+Genet 2017 ; 60 (5): 239-244 Nephropedia Template TP {{tp|p=28246031|t=2017. Novel splice site mutation in CNNM4 gene in a family with Jalili syndrome |pdf=|usr=}}{{28246031}} gab.com Text Novel splice site mutation in CNNM4 gene in a family with Jalili syndrome JO: Eur J Med Genet http://www.kidney.de/pget.php?&tw=1&pmid=28246031 #FOAvip Jalili syndrome is a rare autosomal recessive genetic disease characterized by the association of amelogenesis imperfecta and cone-rod retinal dystrophy. This syndrome is caused by mutations in the CNNM4 gene. Different types of CNNM4 mutations have been reported; missense, nonsense, large deletions, single base insertion, and duplication. We used Sanger sequencing to analyze a large consanguineous family with three siblings affected with Jalili syndrome, suspected clinically after dental and ophthalmological examination. These patients are carrying a novel homozygous mutation in the splice site acceptor of intron 3 (c.1682-1G > C) in the CNNM4 gene. We compare the findings of the present family to those from literature, in order to further delineate Jalili syndrome. Twit Text FOAVip Novel splice site mutation in CNNM4 gene in a family with Jalili syndrome ????Eur J Med Genet http://www.kidney.de/pget.php?&tw=1&pmid=28246031 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=28246031 #FOAvip English Wikipedia <ref>{{Cite pmid|28246031}}</ref> Novel splice site mutation in CNNM4 gene in a family with Jalili syndrome #MMPMID28246031 Cherkaoui Jaouad I; Lyahyai J; Guaoua S; El Alloussi M; Zrhidri A; Doubaj Y; Boulanouar A; Sefiani A Eur J Med Genet 2017[May]; 60 (5): 239-244 PMID28246031show ga Jalili syndrome is a rare autosomal recessive genetic disease characterized by the association of amelogenesis imperfecta and cone-rod retinal dystrophy. This syndrome is caused by mutations in the CNNM4 gene. Different types of CNNM4 mutations have been reported; missense, nonsense, large deletions, single base insertion, and duplication. We used Sanger sequencing to analyze a large consanguineous family with three siblings affected with Jalili syndrome, suspected clinically after dental and ophthalmological examination. These patients are carrying a novel homozygous mutation in the splice site acceptor of intron 3 (c.1682-1G > C) in the CNNM4 gene. We compare the findings of the present family to those from literature, in order to further delineate Jalili syndrome. |*Mutation[MESH] |*RNA Splicing[MESH] |Adolescent[MESH] |Adult[MESH] |Amelogenesis Imperfecta/*genetics[MESH] |Cation Transport Proteins/*genetics[MESH] |Cone-Rod Dystrophies[MESH] |Consanguinity[MESH] |Female[MESH] |Humans[MESH] |Male[MESH] |Pedigree[MESH] |Retinitis Pigmentosa/*genetics[MESH]Novel splice site mutation in CNNM4 gene in a family with Jalili syndr(epmc).pdf DeepDyve Pubget Overpricing