Expanding the phenotypic spectrum of Mabry Syndrome with novel PIGO gene variants associated with hyperphosphatasia, intractable epilepsy, and complex gastrointestinal and urogenital malformations
Holtz, Alexander M., Harrington, Amanda W., McNamara, Erin R., Kielian, Agnieszka, Soul, Janet S., Martinez-Ojeda, Mayra, Levy, Philip T.Langue:
english
Journal:
European Journal of Medical Genetics
DOI:
10.1016/j.ejmg.2019.103802
Date:
November, 2019
Fichier:
PDF, 2.29 MB
english, 2019
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