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10.1002/mgg3.388 http://scihub22266oqcxt.onion/10.1002/mgg3.388 C6014454!6014454!29633571     free     free     free Deprecated: Implicit conversion from float 219.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Mol+Genet+Genomic+Med 2018 ; 6 (3): 463-8 Nephropedia Template TP {{tp|p=29633571|t=2018. ERCC6L2?associated inherited bone marrow failure syndrome |pdf=|usr=}}{{29633571}} gab.com Text ERCC6L2 associated inherited bone marrow failure syndrome JO: Mol Genet Genomic Med http://www.kidney.de/pget.php?&tw=1&pmid=29633571 #FOAvip Background: ERCC6L2?associated disorder has recently been described and only five patients were reported so far. The described phenotype included bone marrow, cerebral, and craniofacial abnormalities. The aim of this study was to further define the genetic and phenotypic spectrum of the disorder by summarizing the five published cases and an additional case that we identified through whole?exome sequencing performed at the University of Toronto. Methods: Clinical data was extracted from the Canadian Inherited Marrow Failure Registry. Whole exome sequencing was performed to identify causative mutations. Results: All six cases had homozygous truncating mutations either at or upstream of the helicase domain of ERCC6L2. All patients displayed bone marrow failure, learning or developmental delay and microcephaly. Our patient was unique in displaying features of cerebellar disease, including ataxia and dysmetria as well as an interval deterioration of the corpus callosum and generalized volume loss on MRI. Another unique feature of our patient was retinal dystrophy with macular involvement. Along with one other patient, our patient displayed craniofacial abnormalities by presenting with low?set prominent ears, a pointed prominent chin, and deep?set eyes. Leukemia is common among patients with inherited bone marrow failure, but thus far, none of the patients have developed this complication. Conclusions: ERCC6L2?associated disorder is a multisystem disorder. The phenotype spectrum includes bone marrow failure, cerebral, and craniofacial abnormalities, as well as cerebellar and retinal abnormalities. Twit Text FOAVip ERCC6L2 associated inherited bone marrow failure syndrome ????Mol Genet Genomic Med http://www.kidney.de/pget.php?&tw=1&pmid=29633571 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=29633571 #FOAvip English Wikipedia <ref>{{Cite pmid|29633571}}</ref> ERCC6L2?associated inherited bone marrow failure syndrome #MMPMID29633571 Shabanova I; Cohen E; Cada M; Vincent A; Cohn RD; Dror Y Mol Genet Genomic Med 2018[May]; 6 (3): 463-8 PMID29633571show ga Background: ERCC6L2?associated disorder has recently been described and only five patients were reported so far. The described phenotype included bone marrow, cerebral, and craniofacial abnormalities. The aim of this study was to further define the genetic and phenotypic spectrum of the disorder by summarizing the five published cases and an additional case that we identified through whole?exome sequencing performed at the University of Toronto. Methods: Clinical data was extracted from the Canadian Inherited Marrow Failure Registry. Whole exome sequencing was performed to identify causative mutations. Results: All six cases had homozygous truncating mutations either at or upstream of the helicase domain of ERCC6L2. All patients displayed bone marrow failure, learning or developmental delay and microcephaly. Our patient was unique in displaying features of cerebellar disease, including ataxia and dysmetria as well as an interval deterioration of the corpus callosum and generalized volume loss on MRI. Another unique feature of our patient was retinal dystrophy with macular involvement. Along with one other patient, our patient displayed craniofacial abnormalities by presenting with low?set prominent ears, a pointed prominent chin, and deep?set eyes. Leukemia is common among patients with inherited bone marrow failure, but thus far, none of the patients have developed this complication. Conclusions: ERCC6L2?associated disorder is a multisystem disorder. The phenotype spectrum includes bone marrow failure, cerebral, and craniofacial abnormalities, as well as cerebellar and retinal abnormalities. äERCC6L2?associated inherited bone marrow failure syndrome (epmc).pdf DeepDyve Pubget Overpricing