Monogenic defects in Russian children with autism spectrum disorders

doi:10.5409/wjcp.v14.i4.108733

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Dec 9, 2025 (publication date) through Nov 3, 2025

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World Journal of Clinical Pediatrics

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2219-2808

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Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA

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World J Clin Pediatr. Dec 9, 2025; 14(4): 108733
Published online Dec 9, 2025. doi: 10.5409/wjcp.v14.i4.108733

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Figure 1 Key findings of the study. ASD: Autism spectrum disorders; CMA: Chromosomal microarray analysis; CES: Clinical exome sequencing; LP: Likely pathogenic; P: Pathogenic; CNV: Copy number variations; VUS: Variants of unknown clinical significance; FMR1: Fragile X Messenger Ribonucleoprotein 1; FRAXA: Fragile X syndrome.

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Figure 2 Family trees. A: Pedigrees of families 1; B: 2 with rare PCDH19 variants. Individuals with autism spectrum disorders depicted as black boxes.

Citation: Suspitsin EN, Malysheva KS, Laptiev SA, Sharonova OS, Abuzova AS, Kuznitsyna AA, Melashenko TV, Efremova OV, Korzun PR, Binnatova JO, Gorgul YA, Syomina MV, Imyanitov EN. Monogenic defects in Russian children with autism spectrum disorders. World J Clin Pediatr 2025; 14(4): 108733
URL: https://www.wjgnet.com/2219-2808/full/v14/i4/108733.htm
DOI: https://dx.doi.org/10.5409/wjcp.v14.i4.108733

Suspitsin EN, Malysheva KS, Laptiev SA, Sharonova OS, Abuzova AS, Kuznitsyna AA, Melashenko TV, Efremova OV, Korzun PR, Binnatova JO, Gorgul YA, Syomina MV, Imyanitov EN. Monogenic defects in Russian children with autism spectrum disorders. World J Clin Pediatr 2025; 14(4): 108733 [DOI: 10.5409/wjcp.v14.i4.108733]

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