TY  - GEN
AU  - Peron,Angela
AU  - Spaccini,Luigina
AU  - Norris,Joy
AU  - Bova,Stefania M
AU  - Selicorni,Angelo
AU  - Weber,Giovanna
AU  - Wood,Tim
AU  - Schwartz,Charles E
AU  - Mastrangelo,Massimo
TI  - Snyder-Robinson syndrome: a novel nonsense mutation in spermine synthase and expansion of the phenotype
SN  - 1552-4833
PY  - 2014///0326
KW  - Codon, Nonsense
KW  - Humans
KW  - Infant
KW  - Male
KW  - X-Linked Intellectual Disability
KW  - diagnosis
KW  - Pedigree
KW  - Phenotype
KW  - Spermine Synthase
KW  - genetics
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1002/ajmg.a.36116
ER  -