Walters-Sen, Lauren C

Atypical breakpoint in a t(6;17) translocation case of acampomelic campomelic dysplasia. [electronic resource] - European journal of medical genetics Jul 2014 - 315-8 p. digital

Publication Type: Case Reports; Journal Article

1878-0849

10.1016/j.ejmg.2014.04.018 doi


Campomelic Dysplasia--genetics
Chromosome Breakpoints
Chromosomes, Human, Pair 17--genetics
Chromosomes, Human, Pair 6--genetics
Female
Humans
Infant
SOX9 Transcription Factor--genetics
Translocation, Genetic