论文信息 - Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature - 字舞流文

Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature

R. Pfundt | C. Creuzot-Garcher | P. Calvas | N. Chassaing | C. Gilissen | Z. Sedlacek | J. Rivière | J. Thevenon | L. Faivre | H. Dollfus | C. Thauvin-Robinet | B. Loeys | Y. Duffourd | G. Vandeweyer | V. Laugel | F. Kooy | M. Havlovicová | P. Kuentz | E. Reyniers | M. Hancarova | A. Bruel | D. Prchalová | S. El Chehadeh | W. S. Kerstjens-Frederikse | C. Bensignor | C. Bonnet | M. Robert | M. Straub | J. S. K. Wassink-Ruiter | Rodica Isaiko | D. Prchalova | Darina Prchalova