HIGHLIGHTS
- who: . et al. from the University General Hospital Attikon, Greece have published the Article: Case report: A RASopathy-causing variant in a Chinese girl with noonan syndrome-like with loose anagen hair, in the Journal: (JOURNAL)
SUMMARY
Currently, only 8 pathogenic SHOC2 variants have been reported to cause NS/LAH through gain-of-function mechanisms (Cordeddu et_al, 2009; Hannig et_al, 2014; Young et_al, 2018; Motta et_al, 2019; Motta et_al, 2022). SHOC2 is a scaffold protein comprising an N-terminal lysine-rich region and subsequent 19 leucine-rich repeats (LRRs) that plays a crucial . . .
If you want to have access to all the content you need to log in!
Thanks :)
If you don't have an account, you can create one here.