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Author

T. P. Vieira

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Case report Open access Oct 2026

A Novel Homozygous Nonsense Variant in DCHS1 in a Brazilian Patient With Van Maldergem Syndrome Type 1: Clinical Report and Literature Review.

Van Maldergem syndrome (VMLDS) is an ultra-rare autosomal recessive disorder characterized by craniofacial dysmorphism, intellectual disability, hypotonia, skeletal anomalies, and feeding difficulties. It is caused by biallelic variants in DCHS1 or FAT4 genes. Fewer than 20 molecularly confirmed cases of VMLDS have bee...

Gabriela Roldão Correia-Costa, Bruna Fagundes Rodrigues Alaite, V. L. Gil-da-Silva-Lopes et al. · 0 citations
Case report Open access Sep 2026

First Report of Uniparental Isodisomy of Chromosome 15 Revealing Angelman Syndrome and Microphthalmia Associated With a Novel Homozygous ALDH1A3 Variant.

Paternal isodisomy of chromosome 15 (iUPD15) is a recognized cause of Angelman syndrome (AS), accounting for approximately 2%-5% of cases. Additionally, another recognized consequence of iUPD is the unmasking of autosomal recessive disorders. However, reports of recessive disorders resulting from iUPD15 remain scarce i...

Gabriela Roldão Correia-Costa, J. R. M. Prota, A. Marques-de-Faria et al. · 0 citations

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