A homozygous CEP57 c.915_925dupCAATGTTCAGC mutation in a patient with mosaic variegated aneuploidy syndrome with rhizomelic shortening in the upper and lower limbs and a narrow thorax
Titel:
A homozygous CEP57 c.915_925dupCAATGTTCAGC mutation in a patient with mosaic variegated aneuploidy syndrome with rhizomelic shortening in the upper and lower limbs and a narrow thorax
Auteur:
De la Torre-García, Oliver Mar-Aldama, Roberto Salgado-Sangri, Ramón Diaz-Gomez, Noe Bonilla-Arcaute, Luis Diaz-Ponce-Medrano, Juan Guevara-Yañez, Roberto Córdova, Emilio J. Monge-Cazares, Tulia Orozco, Lorena Martínez-Hernández, Angélica