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Article History

Received: 1 September 2021

Accepted: 25 May 2022

First Online: 10 June 2022

Declarations

:

: Participant’s mother provided written informed consent and the father’s consent was verbal. The informed consent approved by the Research Ethics Committee of the Federal University of Alagoas (# 19144013.5.0000.5013—Comitê de Ética em Pesquisa of the Universidade Federal de Alagoas) states that one of the aims of the study is to reach the diagnosis to provide treatment and genetic counseling for the participant family. Since this case refers to an autosomal recessive disease, the study of genetic variants in both parents is an inherent part of the diagnostic investigation. Without this, genetic counseling is not possible.According to Brazilian law, in the case of minors (individuals younger than the age of 18), consent for participation in research protocols must be given by one of the parents or legal guardians. In line with this regulation, it was obtained the mother’s written consent. By consenting to the participation of the child, the parents agree to the investigation of the causative variant in their genetic material.

: Participant’s mother provided written informed consent and the father’s consent was verbal following Brazilian regulations above mentioned. The consent clearly states that information will be used for scientific purposes, and no personal information will be disclosed.

: The authors declare that they have no competing interests.