TY  - GEN
AU  - Becerra-Solano,L E
AU  - Butler,J
AU  - Castañeda-Cisneros,G
AU  - McCloskey,D E
AU  - Wang,X
AU  - Pegg,A E
AU  - Schwartz,C E
AU  - Sánchez-Corona,J
AU  - García-Ortiz,J E
TI  - A missense mutation, p.V132G, in the X-linked spermine synthase gene (SMS) causes Snyder-Robinson syndrome
SN  - 1552-4833
PY  - 2009///0416
KW  - Adult
KW  - Chromosomes, Human, X
KW  - DNA Mutational Analysis
KW  - Exons
KW  - Genes, X-Linked
KW  - Genetic Linkage
KW  - Humans
KW  - Intellectual Disability
KW  - genetics
KW  - Male
KW  - Marfan Syndrome
KW  - X-Linked Intellectual Disability
KW  - Mutation, Missense
KW  - Osteoporosis
KW  - Pedigree
KW  - Scoliosis
KW  - Siblings
KW  - Spermine Synthase
KW  - Young Adult
N1  - Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1002/ajmg.a.32641
ER  -