Heterozygous truncating variant of TAOK1 in a boy with periventricular nodular heterotopia: a case report and literature review of TAOK1-related neurodevelopmental disorders.
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
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"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."
"Funding None of the Authors have funding to declare."
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Last Updated: Aug 05, 2025