De Novo T(12;17)(p13.3;q21.3) Translocation with a Breakpoint Near the 5′ End of the HOXB Gene Cluster in a Patient with Developmental Delay and Skeletal Malformations
European journal of human genetics(2007)
Key words
developmental delay,disease-associated balanced chromosome rearrangement,hexadactyly,HOXB,position effect,skeletal malformations
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