Burkitt-Wright, Emma M M

Neonatal lethal Costello syndrome and unusual dinucleotide deletion/insertion mutations in HRAS predicting p.Gly12Val. [electronic resource] - American journal of medical genetics. Part A May 2012 - 1102-10 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1552-4833

10.1002/ajmg.a.35296 doi


Costello Syndrome--genetics
Diagnosis, Differential
Genes, ras--genetics
Heart Defects, Congenital
Humans
INDEL Mutation
Infant, Newborn