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10.3109/13816810.2016.1164192 http://scihub22266oqcxt.onion/10.3109/13816810.2016.1164192 27070327!ä!27070327 Deprecated: Implicit conversion from float 217.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 217.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 217.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 217.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Ophthalmic+Genet 2017 ; 38 (2): 161-166 Nephropedia Template TP {{tp|p=27070327|t=2017. A new familial case of Jalili syndrome caused by a novel mutation in CNNM4 |pdf=|usr=}}{{27070327}} gab.com Text A new familial case of Jalili syndrome caused by a novel mutation in CNNM4 JO: Ophthalmic Genet http://www.kidney.de/pget.php?&tw=1&pmid=27070327 #FOAvip Jalili syndrome (JS) is a rare autosomal recessive disorder characterized by the combination of cone-rod dystrophy (CRD) and amelogenesis imperfecta. To date, 18 families with JS have been reported, 16 of which were found to have a mutation in CNNM4. We describe three siblings with clinical features of JS with a homozygous missense mutation in exon 4 of CNNM4, c.1781A>G (p.N594S). They demonstrated phenotypic variability in terms of ocular and dental findings. Although fundus examination and optical coherence tomography results were normal, the electroretinogram was compatible with CRD, supporting the diagnosis of JS. The dental phenotype severity also varied among the siblings. Twit Text FOAVip A new familial case of Jalili syndrome caused by a novel mutation in CNNM4 ????Ophthalmic Genet http://www.kidney.de/pget.php?&tw=1&pmid=27070327 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=27070327 #FOAvip English Wikipedia <ref>{{Cite pmid|27070327}}</ref> A new familial case of Jalili syndrome caused by a novel mutation in CNNM4 #MMPMID27070327 Topcu V; Alp MY; Alp CK; Bakir A; Geylan D; Yilmazoglu MO Ophthalmic Genet 2017[Mar]; 38 (2): 161-166 PMID27070327show ga Jalili syndrome (JS) is a rare autosomal recessive disorder characterized by the combination of cone-rod dystrophy (CRD) and amelogenesis imperfecta. To date, 18 families with JS have been reported, 16 of which were found to have a mutation in CNNM4. We describe three siblings with clinical features of JS with a homozygous missense mutation in exon 4 of CNNM4, c.1781A>G (p.N594S). They demonstrated phenotypic variability in terms of ocular and dental findings. Although fundus examination and optical coherence tomography results were normal, the electroretinogram was compatible with CRD, supporting the diagnosis of JS. The dental phenotype severity also varied among the siblings. |*Mutation, Missense[MESH] |Adolescent[MESH] |Amelogenesis Imperfecta/diagnosis/*genetics[MESH] |Cation Transport Proteins/*genetics[MESH] |Child[MESH] |Cone-Rod Dystrophies[MESH] |Consanguinity[MESH] |Electroretinography[MESH] |Exons/genetics[MESH] |Female[MESH] |Homozygote[MESH] |Humans[MESH] |Pedigree[MESH] |Polymerase Chain Reaction[MESH] |Retinitis Pigmentosa/diagnosis/*genetics[MESH] |Siblings[MESH]A new familial case of Jalili syndrome caused by a novel mutation in C(epmc).pdf DeepDyve Pubget Overpricing