First report of X-linked hypohidrotic ectodermal dysplasia with a hemizygous c.1142G > C in the EDA gene: variant of uncertain significance or new pathogenic variant?

Tumminello, Mario; Gangemi, Antonella; Matina, Federico; Guardino, Melania; Giuffrè, Bianca Lea; Corsello, Giovanni

doi:10.1186/s13052-021-01078-5

Italian Journal of Pediatrics

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Last updated: Sat, 20 Apr 2024 5:08:32 Z

First report of X-linked hypohidrotic ectodermal dysplasia with a hemizygous c.1142G > C in the EDA gene: variant of uncertain significance or new pathogenic variant?

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ISSN: 1824-7288

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