Fetal edema, not overgrowth, is associated with neonatal lethal Costello syndrome due to the HRAS p.Gly12Val mutation.

Autor: Bend EG; Greenwood Genetic Center, Greenwood, South Carolina, USA., Louie RJ, Stevenson RE
Jazyk: angličtina
Zdroj: Clinical dysmorphology [Clin Dysmorphol] 2019 Apr; Vol. 28 (2), pp. 71-73.
DOI: 10.1097/MCD.0000000000000260
Databáze: MEDLINE