Snyder-Robinson syndrome: a novel nonsense mutation in spermine synthase and expansion of the phenotype.
Peron, Angela
Snyder-Robinson syndrome: a novel nonsense mutation in spermine synthase and expansion of the phenotype. [electronic resource] - American journal of medical genetics. Part A Sep 2013 - 2316-20 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1552-4833
10.1002/ajmg.a.36116 doi
Codon, Nonsense
Humans
Infant
Male
X-Linked Intellectual Disability--diagnosis
Pedigree
Phenotype
Spermine Synthase--genetics
Snyder-Robinson syndrome: a novel nonsense mutation in spermine synthase and expansion of the phenotype. [electronic resource] - American journal of medical genetics. Part A Sep 2013 - 2316-20 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1552-4833
10.1002/ajmg.a.36116 doi
Codon, Nonsense
Humans
Infant
Male
X-Linked Intellectual Disability--diagnosis
Pedigree
Phenotype
Spermine Synthase--genetics