Hypophosphatasia: a genetic-based nosology and new insights in genotype-phenotype correlation

Hypophosphatasia (HPP) is caused by pathogenic variants in the ALPL gene. There is a large continuum in the severity, ranging from a lethal perinatal form to dental issues. We analyzed a cohort of 424 HPP patients from European geographic origin or ancestry. Using 3D modeling and results of function...

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Vydáno v:Eur J Hum Genet
Hlavní autoři: Mornet, Etienne, Taillandier, Agnès, Domingues, Christelle, Dufour, Annika, Benaloun, Emmanuelle, Lavaud, Nicole, Wallon, Fabienne, Rousseau, Nathalie, Charle, Carole, Guberto, Mihelaiti, Muti, Christine, Simon-Bouy, Brigitte
Médium: Artigo
Jazyk:Inglês
Vydáno: Springer International Publishing 2020
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7868366/
https://ncbi.nlm.nih.gov/pubmed/32973344
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-020-00732-6
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