Kyphoscoliotic Ehlers-Danlos syndrome (kEDS) is caused by biallelic pathogenic variants in either PLOD1, encoding the enzyme lysyl hydroxylase 1 (LH1), which is crucial for collagen lysine hydroxylation and crosslink formation or in FKBP14, encoding the collagen chaperone FKBP22. This study aims to define the clinical...
D. Syx, M. Colman, Zoë Malfait et al.· Matrix Biology· 0 citations
This case report emphasizes the phenotypic spectrum of this disorder and describes a variant that has not been previously reported in the literature, which is associated with heterozygous truncating pathogenic variants in the ASXL3 gene.
Şirin Sedef Baş, Burcu Yeter, N. Elçioğlu· Case Reports in Genetics· 0 citations
This nationwide study expands the genotype-phenotype spectrum of Sotos and Malan syndromes in Türkiye and supports improved diagnostic and clinical management strategies.
Ceren Yılmaz Uzman, Semra Gürsoy, F. Hazan et al.· Clinical Genetics· 0 citations
Current evidence on the molecular basis, clinical manifestations, oral findings, diagnostic approaches, and management strategies of NF1 and related RASopathies is offered, with a focus on NF1.
Elif Kabacıoğlu, N. Elçioğlu, Funda Kökali et al.· Cerrahpasa Medical Journal· 0 citations
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