Defects in the acid phosphatase ACPT cause recessive hypoplastic amelogenesis imperfecta

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 differentiat...

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Bibliografiska uppgifter
I publikationen:Eur J Hum Genet
Huvudupphovsmän: Smith, Claire EL, Whitehouse, Laura LE, Poulter, James A, Brookes, Steven J, Day, Peter F, Soldani, Francesca, Kirkham, Jennifer, Inglehearn, Chris F, Mighell, Alan J
Materialtyp: Artigo
Språk:Inglês
Publicerad: Nature Publishing Group 2017
Ämnen:
Short Report
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC5511509/
https://ncbi.nlm.nih.gov/pubmed/28513613
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2017.79
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