Aydan Mengübaş Erbaş
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View article: Revisiting Wiedemann-Steiner Syndrome: Novel KMT2A Variants and Broadened Clinical Spectrum
Revisiting Wiedemann-Steiner Syndrome: Novel KMT2A Variants and Broadened Clinical Spectrum Open
View article: Revisiting Wiedemann-Steiner Syndrome: Novel KMT2A Variants and Broadened Clinical Spectrum
Revisiting Wiedemann-Steiner Syndrome: Novel KMT2A Variants and Broadened Clinical Spectrum Open
This report presents the largest Turkish WDSTS cohort to date, expands the known KMT2A variant spectrum with nine novel alleles, and highlights several underreported clinical features. Beyond its immediate clinical relevance, the st…
View article: The Opposite Phenotype of Sotos Syndrome: 5q35.2q35.3 Microduplication Syndrome
The Opposite Phenotype of Sotos Syndrome: 5q35.2q35.3 Microduplication Syndrome Open
Sotos syndrome is a genetic disorder resulting from heterozygous pathogenic variants or deletions in the nuclear receptor-binding SET domain protein 1 (NSD1) gene. It is characterized by prenatal and postnatal overgrowth, macrocephaly, dis…
View article: A Case of Sanfilippo Syndrome Type C and Wolfram Syndrome Type 1 and the Role of Next-Generation Sequencing in Diagnosis
A Case of Sanfilippo Syndrome Type C and Wolfram Syndrome Type 1 and the Role of Next-Generation Sequencing in Diagnosis Open
Mucopolysaccharidosis IIIC (MPS IIIC) and Wolfram syndrome type 1 (WS1) are rarely seen autosomal recessive disorders with overlapping clinical features. This case report aims to highlight the role of next-generation sequencing (NGS) in di…