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Expanding the phenotypic spectrum of Mabry Syndrome with novel PIGO gene variants associated with hyperphosphatasia, intractable epilepsy, and complex gastrointestinal and urogenital malformations

Author:

Alexander M. Holtz,Amanda W. Harrington,Erin R. McNamara,Agnieszka Kielian,Janet S. Soul,Mayra Martinez-Ojeda,Philip T. Levy

Publication:

European Journal of Medical Genetics

Publisher:

Elsevier

Date:

April 2020

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