Author

Ayşe Burcu Doğan Arı

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Sep 2026

Expanding the Clinical and Genetic Spectrum of Schmid Metaphyseal Chondrodysplasia: A Seven-Patient Series Including a Rare Homozygous COL10A1 Case.

Schmid metaphyseal chondrodysplasia (SMCD, OMIM #156500) is a skeletal dysplasia characterized by progressive short stature, shortening of the tubular bones, and genu varum. In this study, we present the clinical and genetic findings of patients with COL10A1 variants. A total of seven patients from two unrelated famili...

Ayşe Burcu Doğan Arı, Esra Kılıç · American Journal of Medical... · 0 citations

Jan 2026

PTCH1-Related Gorlin Syndrome: Expanding the Clinical and Molecular Spectrum in a Cohort of 11 Patients

Molecular confirmation of the diagnosis of Gorlin syndrome is important for the provision of genetic counselling, consideration of preimplantation genetic diagnosis, and appropriate patient follow-up and treatment planning.

Ayşe Burcu Doğan Arı, Büşra Çavdarlı, Gülay Güleç Ceylan et al. · Klinische Pädiatrie · 0 citations