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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Short Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5511509/
https://www.ncbi.nlm.nih.gov/pubmed/28513613
http://dx.doi.org/10.1038/ejhg.2017.79

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5511509/
https://www.ncbi.nlm.nih.gov/pubmed/28513613
http://dx.doi.org/10.1038/ejhg.2017.79

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