[PDF][PDF] Highlighting rare disease research with a GENETICS and G3 series on genetic models of rare diseases
To highlight the development of new model systems, assays, and resources designed to
illuminate rare disease gene function, the Genetics Society of America has launched a …
illuminate rare disease gene function, the Genetics Society of America has launched a …
Novel biallelic SASS6 variants associated with primary microcephaly and fetal growth restriction
X Kong, J Xu, H Yin, H Jiang, X Cao… - American Journal of …, 2024 - Wiley Online Library
Primary microcephaly is characterized by a head circumference prenatally or at birth that
falls below three standard deviations from age‐, ethnic‐, and sex‐specific norms. Genetic …
falls below three standard deviations from age‐, ethnic‐, and sex‐specific norms. Genetic …