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10.1002/ajmg.a.36104 http://scihub22266oqcxt.onion/10.1002/ajmg.a.36104 C5094807!5094807!23894113     free     free     free Warning: imagejpeg(C:\Inetpub\vhosts\kidney.de\httpdocs\phplern\23894113.jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117       Am+J+Med+Genet+A 2013 ; 161A (9): 2266-73 Nephropedia Template TP {{tp|p=23894113|t=2013. Endocrine Abnormalities in Townes?Brocks Syndrome |pdf=|usr=}}{{23894113}} gab.com Text Endocrine Abnormalities in Townes Brocks Syndrome JO: Am J Med Genet A http://www.kidney.de/pget.php?&tw=1&pmid=23894113 #FOAvip Townes?Brocks syndrome is a recognizable variable pattern of malformation caused by mutations to the SALL1 gene located on chromosome 16q12.1. Only three known cases of Townes?Brocks syndrome with proven SALL1 gene mutation and concurrent endocrine abnormalities have been previously documented to our knowledge [Kohlhase et al., 1999; Botzenhart et al., 2005; Choi et al., 2010]. We report on two unrelated patients with Townes?Brocks syndrome who share an identical SALL1 mutation (c.3414_3415delAT), who also have endocrine abnormalities. Patient 1 appears to be the first known case of growth hormone deficiency, and Patient 2 extends the number of documented mutation cases with hypothyroidism to four. We suspect endocrine abnormalities, particularly treatable deficiencies, may be an underappreciated component to Townes?Brocks syndrome. Twit Text FOAVip Endocrine Abnormalities in Townes Brocks Syndrome ????Am J Med Genet A http://www.kidney.de/pget.php?&tw=1&pmid=23894113 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=23894113 #FOAvip English Wikipedia <ref>{{Cite pmid|23894113}}</ref> Endocrine Abnormalities in Townes?Brocks Syndrome #MMPMID23894113 Lawrence C; Hong-McAtee I; Hall B; Hartsfield J; Rutherford A; Bonilla T; Bay C Am J Med Genet A 2013[Sep]; 161A (9): 2266-73 PMID23894113show ga Townes?Brocks syndrome is a recognizable variable pattern of malformation caused by mutations to the SALL1 gene located on chromosome 16q12.1. Only three known cases of Townes?Brocks syndrome with proven SALL1 gene mutation and concurrent endocrine abnormalities have been previously documented to our knowledge [Kohlhase et al., 1999; Botzenhart et al., 2005; Choi et al., 2010]. We report on two unrelated patients with Townes?Brocks syndrome who share an identical SALL1 mutation (c.3414_3415delAT), who also have endocrine abnormalities. Patient 1 appears to be the first known case of growth hormone deficiency, and Patient 2 extends the number of documented mutation cases with hypothyroidism to four. We suspect endocrine abnormalities, particularly treatable deficiencies, may be an underappreciated component to Townes?Brocks syndrome. äEndocrine Abnormalities in Townes?Brocks Syndrome (epmc).pdf DeepDyve Pubget Overpricing