Scientific Programme & Abstracts from the International Meeting in Pediatric Endocrinology (IMPE)

impe0096ep29 | Fat, Metabolism and Obesity | IMPE2023

Basilicata-Akhtar syndrome caused by a novel hemizygous variant in MSL3 gene: a case report

Wu Wenyong , Chen Ruimin

Objective: To investigate the clinical and genetic characteristics of Basilicata-Akhtar syndrome caused by MSL3 gene variant.Methods: A retrospective analysis of the clinical data, laboratory examination and gene sequencing results of a child with Basilicata-Akhtar syndrome caused by MSL3 gene mutation was analyzed and summarized in combination with literature.Results:</st...