A pure de novo 16p13.3 duplication and amplification in a patient with femoral hypoplasia, psychomotor retardation, heart defect, and facial dysmorphism—a case report and literatur...

por Socha, Magdalena, Szoszkiewicz, Anna, Simon, Dorota, Jamsheer, Aleksander
Publicado 2022

Bilateral radial agenesis with absent thumbs, complex heart defect, short stature, and facial dysmorphism in a patient with pure distal microduplication of 5q35.2-5q35.3

por Jamsheer, Aleksander, Sowińska, Anna, Simon, Dorota, Jamsheer-Bratkowska, Małgorzata, Trzeciak, Tomasz, Latos-Bieleńska, Anna
Publicado 2013