Heterozygous truncating variant of TAOK1 in a boy with periventricular nodular heterotopia: a case report and literature review of TAOK1-related neurodevelopmental disorders.

Publication Year: 2024

DOI:
10.1186/s12920-024-01840-8

PMCID:
PMC10916022

PMID:
38443934

Journal Information

Full Title: BMC Med Genomics

Abbreviation: BMC Med Genomics

Country: Unknown

Publisher: Unknown

Language: N/A

Publication Details

Subject Category: Genetics, Medical

Available in Europe PMC: Yes

Available in PMC: Yes

PDF Available: No

Transparency Score
3/6
50.0% Transparent
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Evidence found in paper:

"Declarations Ethics approval and consent to participateEthical review and approval were waived for this study because, according to the policy of “Azienda USL-IRCCS di Reggio Emilia” and the competent Ethics Committee of “Area Vasta Emilia Nord (AVEN)”, informed consent is considered sufficient for reports and case series of an observational nature. Written informed consent for publication was obtained from the participant’s parent/legal guardian. Consent for publicationWritten informed consent for publication of the patient’s clinical information, brain MRI images, photography and molecular data was obtained by the patient’s parent. Competing interestsThe authors declare no competing interests. Competing interests The authors declare no competing interests."

Evidence found in paper:

"Funding None of the Authors have funding to declare."

Protocol Registration
Open Access
Paper is freely available to read
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Tool: rtransparent

OST Version: N/A

Last Updated: Aug 05, 2025