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Novel SCNN1A gene splicing-site mutation causing autosomal recessive pseudohypoaldosteronism type 1 (PHA1) in two Italian patients belonging to the same small town

Crossref DOI link: https://doi.org/10.1186/s13052-021-01080-x

Published Online: 2021-06-16

Published Print: 2021-12

Update policy: https://doi.org/10.1007/springer_crossmark_policy

Authors

Serra, Gregorio https://orcid.org/0000-0002-2918-9826
Antona, Vincenzo

D’Alessandro, Maria Michela

Maggio, Maria Cristina

Verde, Vincenzo

Corsello, Giovanni
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Version of Record valid from 2021-06-16
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Article History

Received: 16 April 2021

Accepted: 20 May 2021

First Online: 16 June 2021

Declarations

:

: Written informed consent was obtained from parents of the first patient, and from the second patient. The study was approved by the Mother and Child Department of the University of Palermo (Palermo, Italy). All procedures performed in this report were in accordance with the ethical standards of the institutional and national research committee, and with the 1964 Helsinki declaration and its later amendments, or comparable ethical standards.

: Not applicable.

: The authors declare that they have no competing interests.

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