Prenatal and postnatal phenotype of a pathologic variant in the ATP6AP1 gene.

Abstract excerpt

INTRODUCTION: The ATP6AP1 gene encodes for ATPase H+ transporting protein. ATP6AP1 gene mutations are associated with congenital disorders of glycosylation (CDG) and can affect multiple organ system. Descriptions of postnatal phenotype include immunodeficiency, hepatopathy and cognitive impairment. No prenatal phenotype of these gene mutations has been described to date. CASE: This is a description of the...

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• Ectodermal Dysplasia
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