Frontiers19d
Molecular Diagnosis of Neurofibromatosis by Multigene Panel Testing
Neurofibromatosis (NF) is characterized by abnormal development of the nervous system, bones, and skin. It can be divided into the following three different clinical types: NF type 1 (NF1), NF type 2 ...
jmg.bmj20d
Parental mosaicism detection and preimplantation genetic testing in families with multiple transmissions of de novo mutations
Background De novo mutations (DNMs) are linked with many severe early-onset disorders ranging from rare congenital malformation to intellectual disability. Conventionally, DNMs are considered to have ...