Sacral abnormalities including caudal appendage, skeletal dysplasia, and prenatal cardiomyopathy associated with a pathogenic TAB2 variant in a 3-generation family
在一个三代家族中，与致病性TAB2变异相关的骶骨异常（包括尾状附属物）、骨骼发育不良和产前心肌病
期刊:American Journal of Medical Genetics Part A
影响因子:1.7
doi:10.1002/ajmg.a.62929
Koene, Saskia; Klerx-Melis, Floortje; Roest, Arno Anne Willem; Kleijwegt, Maarten Cornelis; Bootsma, Marianne; Haak, Monique C; van Haeringen, Meike Heleen; Ruivenkamp, Claudia Antoinette Laetitia; Nibbeling, Esther Anne Rieky; van Haeringen, Arie
