Artigo · Revista · 2025

Exome sequencing revealed a novel homozygous variant in TRMT61 A in a multiplex family with atypical Cornelia de Lange Syndrome from Rwanda

Esther Uwibambe, Abdoulaye Yalcouyé, Elvis Twumasi Aboagye, Lettilia Xhakaza, Kalinka Popel, N. Dukuze e mais 6

BMC Medical Genomics

• Acesso aberto · Dourado
• Internacional · 3 países

Lê-lo10.1186/s12920-025-02153-0