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10.1016/j.ajhg.2013.10.013 http://scihub22266oqcxt.onion/10.1016/j.ajhg.2013.10.013 C3853004!3853004 !24268661     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 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 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 267.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 267.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 267.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Warning: imagejpeg(C:\Inetpub\vhosts\kidney.de\httpdocs\phplern\24268661 .jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117       Am+J+Hum+Genet 2013 ; 93 (6 ): 1100-7 Nephropedia Template TP {{tp|p=24268661 |t=2013. Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis |pdf=|usr=}}{{24268661 }} gab.com Text Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis JO: Am J Hum Genet http://www.kidney.de/pget.php?&tw=1&pmid=24268661 #FOAvip Congenital poikiloderma is characterized by a combination of mottled pigmentation, telangiectasia, and epidermal atrophy in the first few months of life. We have previously described a South African European-descent family affected by a rare autosomal-dominant form of hereditary fibrosing poikiloderma accompanied by tendon contracture, myopathy, and pulmonary fibrosis. Here, we report the identification of causative mutations in FAM111B by whole-exome sequencing. In total, three FAM111B missense mutations were identified in five kindreds of different ethnic backgrounds. The mutation segregated with the disease in one large pedigree, and mutations were de novo in two other pedigrees. All three mutations were absent from public databases and were not observed on Sanger sequencing of 388 ethnically matched control subjects. The three single-nucleotide mutations code for amino acid changes that are clustered within a putative trypsin-like cysteine/serine peptidase domain of FAM111B. These findings provide evidence of the involvement of FAM111B in congenital poikiloderma and multisystem fibrosis. Twit Text FOAVip Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis ????Am J Hum Genet http://www.kidney.de/pget.php?&tw=1&pmid=24268661 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=24268661 #FOAvip English Wikipedia <ref>{{Cite pmid|24268661 }}</ref> Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis #MMPMID24268661 Mercier S ; Küry S ; Shaboodien G ; Houniet DT ; Khumalo NP ; Bou-Hanna C ; Bodak N ; Cormier-Daire V ; David A ; Faivre L ; Figarella-Branger D ; Gherardi RK ; Glen E ; Hamel A ; Laboisse C ; Le Caignec C ; Lindenbaum P ; Magot A ; Munnich A ; Mussini JM ; Pillay K ; Rahman T ; Redon R ; Salort-Campana E ; Santibanez-Koref M ; Thauvin C ; Barbarot S ; Keavney B ; Bézieau S ; Mayosi BM Am J Hum Genet 2013[Dec]; 93 (6 ): 1100-7 PMID24268661 show ga Congenital poikiloderma is characterized by a combination of mottled pigmentation, telangiectasia, and epidermal atrophy in the first few months of life. We have previously described a South African European-descent family affected by a rare autosomal-dominant form of hereditary fibrosing poikiloderma accompanied by tendon contracture, myopathy, and pulmonary fibrosis. Here, we report the identification of causative mutations in FAM111B by whole-exome sequencing. In total, three FAM111B missense mutations were identified in five kindreds of different ethnic backgrounds. The mutation segregated with the disease in one large pedigree, and mutations were de novo in two other pedigrees. All three mutations were absent from public databases and were not observed on Sanger sequencing of 388 ethnically matched control subjects. The three single-nucleotide mutations code for amino acid changes that are clustered within a putative trypsin-like cysteine/serine peptidase domain of FAM111B. These findings provide evidence of the involvement of FAM111B in congenital poikiloderma and multisystem fibrosis. |*Mutation [MESH] |Adolescent [MESH] |Adult [MESH] |Cell Cycle Proteins/*genetics [MESH] |Child [MESH] |Child, Preschool [MESH] |Contracture/*physiopathology [MESH] |Female [MESH] |Humans [MESH] |Infant [MESH] |Infant, Newborn [MESH] |Male [MESH] |Muscular Diseases/*complications [MESH] |Pedigree [MESH] |Phenotype [MESH] |Pulmonary Fibrosis/*complications [MESH] |Rothmund-Thomson Syndrome/*complications/diagnosis/*genetics [MESH] |Tendons/*physiopathology [MESH]Mutations in FAM111B cause hereditary fibrosing poikiloderma with tend(epmc).pdf DeepDyve Pubget Overpricing