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10.1038/ejhg.2017.79 http://scihub22266oqcxt.onion/10.1038/ejhg.2017.79 C5511509!5511509!28513613     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       Eur+J+Hum+Genet 2017 ; 25 (8): 1015-9 Nephropedia Template TP {{tp|p=28513613|t=2017. Defects in the acid phosphatase ACPT cause recessive hypoplastic amelogenesis imperfecta |pdf=|usr=}}{{28513613}} gab.com Text Defects in the acid phosphatase ACPT cause recessive hypoplastic amelogenesis imperfecta JO: Eur J Hum Genet http://www.kidney.de/pget.php?&tw=1&pmid=28513613 #FOAvip We identified two homozygous missense variants (c.428C>T, p.(T143M) and c.746C>T, p.(P249L)) in ACPT, the gene encoding acid phosphatase, testicular, which segregates with hypoplastic amelogenesis imperfecta in two unrelated families. ACPT is reported to play a role in odontoblast differentiation and mineralisation by supplying phosphate during dentine formation. Analysis by computerised tomography and scanning electron microscopy of a primary molar tooth from an individual homozygous for the c.746C>T variant revealed an enamel layer that was hypoplastic, but mineralised with prismatic architecture. These findings implicate variants in ACPT as a cause of early failure of amelogenesis during the secretory phase. Twit Text FOAVip Defects in the acid phosphatase ACPT cause recessive hypoplastic amelogenesis imperfecta ????Eur J Hum Genet http://www.kidney.de/pget.php?&tw=1&pmid=28513613 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=28513613 #FOAvip English Wikipedia <ref>{{Cite pmid|28513613}}</ref> Defects in the acid phosphatase ACPT cause recessive hypoplastic amelogenesis imperfecta #MMPMID28513613 Smith CE; Whitehouse LL; Poulter JA; Brookes SJ; Day PF; Soldani F; Kirkham J; Inglehearn CF; Mighell AJ Eur J Hum Genet 2017[Aug]; 25 (8): 1015-9 PMID28513613show ga We identified two homozygous missense variants (c.428C>T, p.(T143M) and c.746C>T, p.(P249L)) in ACPT, the gene encoding acid phosphatase, testicular, which segregates with hypoplastic amelogenesis imperfecta in two unrelated families. ACPT is reported to play a role in odontoblast differentiation and mineralisation by supplying phosphate during dentine formation. Analysis by computerised tomography and scanning electron microscopy of a primary molar tooth from an individual homozygous for the c.746C>T variant revealed an enamel layer that was hypoplastic, but mineralised with prismatic architecture. These findings implicate variants in ACPT as a cause of early failure of amelogenesis during the secretory phase. äDefects in the acid phosphatase ACPT cause recessive hypoplastic amelo(epmc).pdf DeepDyve Pubget Overpricing