Frameshift mutation hotspot identified in Smith-Magenis syndrome: case report and review of literature.

Truong, Hoa T

Frameshift mutation hotspot identified in Smith-Magenis syndrome: case report and review of literature. [electronic resource] - BMC medical genetics Oct 2010 - 142 p. digital

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

1471-2350

10.1186/1471-2350-11-142 doi


Abnormalities, Multiple--genetics
Adolescent
Chromosomes, Human, Pair 17
Exons
Female
Frameshift Mutation
Hearing Loss--etiology
Humans
Male
Phenotype
Self-Injurious Behavior--etiology
Sequence Analysis, DNA
Trans-Activators
Transcription Factors--genetics