Showing results 1 to 3 of 3
Title | Author(s) | Issue Date | |
---|---|---|---|
Exome sequencing of a Chinese patient cohort with ID/ASD and macrocephaly/megalencephaly: Identification of a patient with biallelic PTEN mutations and others with germline/ post-zygotic mutations in PIK3C-AKT-mTOR pathway Proceeding/Conference:17th Manchester Dysmorphology Conference | 2016 | ||
2017 | |||
Mosaic KRAS mutation in a patient with encephalocraniocutaneous lipomatosis and renovascular hypertension Journal:American Journal of Medical Genetics Part A | 2018 |