Novel Missense Variant in the PAN2 Gene Associated With Congenital Anomalies and Neurodevelopmental Delay: Expanding the Phenotypic and Mutational Spectrum of PAN2‐Related Disorders

Articles > Case Report · 2025

Authors: Muhsin Özgür ÇOĞULU, DURDUGÜL AYYILDIZ EMECEN, Tahir ATİK, Esra IŞIK, Asude DURMAZ, Ayça AYKUT, Feriştah Ferda ÖZKINAY

BIRTH DEFECTS RESEARCH, Journal Indexed in SCI Expanded, International, 2025, vol 117, pp 1-1