Rothmund Thomson Syndrome
Dec. 27, 2024
Rothmund–Thomson syndrome type 1 caused by biallelic ANAPC1 gene mutations - Zirn - 2021 - Skin Health and Disease - Wiley Online Library Novel physiological RECQL4 alternative transcript disclosed by molecular characterisation of Rothmund–Thomson Syndrome sibs with mild phenotype | European Journal of Human Genetics Rare presentation of Rothmund-Thomson syndrome with predominantly cutaneous findings | Semantic Scholar Rothmund Thomson Syndrome