M. Alay

Broadening the Okur-Chung syndrome phenotype: adult-onset metabolic features and a contiguous 20p13 deletion in a Turkish multicenter cohort.

Okur-Chung neurodevelopmental syndrome (OCNDS; OMIM #617062) is an ultra-rare autosomal dominant disorder caused by heterozygous CSNK2A1 variants encoding CK2α; although the CSNK2A1 Foundation registry lists more than 350 diagnosed individuals worldwide, individual-level phenotypic data have been published for far fewe...

Comparative Alignment of CFTR2 and CFTR-France Classifications with a Turkish Cystic Fibrosis Referral Cohort

CFTR variant spectra vary across populations, potentially limiting the transferability of reference classifications. We compared CFTR2 and CFTR-France with a single-centre Turkish cystic fibrosis referral cohort of 418 individuals tested between 2016 and 2022. To avoid incorporation bias, the primary analysis used meas...

Refining the Hypochondroplasia Phenotypic Continuum: Genetic, Endocrine, and Radiological Findings in 23 Patients.