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10.1016/j.oooo.2015.04.002 http://scihub22266oqcxt.onion/10.1016/j.oooo.2015.04.002 26117809!?!26117809       Oral+Surg+Oral+Med+Oral+Pathol+Oral+Radiol 2015 ; 120 (5): e210-8 Nephropedia Template TP {{tp|p=26117809|t=2015. Jalili syndrome presenting with situs inversus totalis and keratoconus: the first case in the Indian subcontinent |pdf=|usr=}}{{26117809}} gab.com Text Jalili syndrome presenting with situs inversus totalis and keratoconus: the first case in the Indian subcontinent JO: Oral Surg Oral Med Oral Pathol Oral Radiol http://www.kidney.de/pget.php?&tw=1&pmid=26117809 #FOAvip Jalili syndrome (JS) (MIM#217080) is a rare genetic disorder characterized by the comorbid appearance of cone-rod dystrophy (CORD) and amelogenesis imperfecta (AI). JS is an autosomal recessive inherited disorder caused by different mutations, all with a linkage at achromatopsia locus 2 q11 on the metal transporter gene CNNM4. The case report presented here describes JS with distinct phenotypic variations such as situs inversus totalis (SIT) along with additional ophthalmic findings such as keratoconus and ectopia lentis. It is the first case of JS reported from the Indian subcontinent, affecting a male patient of Muslim faith from an area having high fluoride levels in the ground water. A positive history of consanguineous marriage among his family members of past generations was also evident. Twit Text FOAVip Jalili syndrome presenting with situs inversus totalis and keratoconus: the first case in the Indian subcontinent ????Oral Surg Oral Med Oral Pathol Oral Radiol http://www.kidney.de/pget.php?&tw=1&pmid=26117809 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=26117809 #FOAvip English Wikipedia <ref>{{Cite pmid|26117809}}</ref> Jalili syndrome presenting with situs inversus totalis and keratoconus: the first case in the Indian subcontinent #MMPMID26117809 Purwar P; Sareen S; Bhartiya K; Sayed Inayatullah SR; Bansal M; Chahal V; Gupta SK; Dixit J; Sheel V; Rai P Oral Surg Oral Med Oral Pathol Oral Radiol 2015[Nov]; 120 (5): e210-8 PMID26117809show ga Jalili syndrome (JS) (MIM#217080) is a rare genetic disorder characterized by the comorbid appearance of cone-rod dystrophy (CORD) and amelogenesis imperfecta (AI). JS is an autosomal recessive inherited disorder caused by different mutations, all with a linkage at achromatopsia locus 2 q11 on the metal transporter gene CNNM4. The case report presented here describes JS with distinct phenotypic variations such as situs inversus totalis (SIT) along with additional ophthalmic findings such as keratoconus and ectopia lentis. It is the first case of JS reported from the Indian subcontinent, affecting a male patient of Muslim faith from an area having high fluoride levels in the ground water. A positive history of consanguineous marriage among his family members of past generations was also evident. |Adult[MESH] |Amelogenesis Imperfecta/*diagnosis/therapy[MESH] |Cone-Rod Dystrophies[MESH] |Diagnosis, Differential[MESH] |Diagnostic Imaging[MESH] |Genetic Predisposition to Disease[MESH] |Humans[MESH] |India[MESH] |Keratoconus/*diagnosis/therapy[MESH] |Male[MESH] |Pedigree[MESH] |Phenotype[MESH] |Retinitis Pigmentosa/*diagnosis/therapy[MESH]Jalili syndrome presenting with situs inversus totalis and keratoconus(epmc).pdf DeepDyve Pubget Overpricing