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A splice donor site mutation in HOXD13 underlies synpolydactyly with cortical bone thinning

Xiuyan Shi1, Chunyan Ji, Lihua Cao

  • 1The Research Center for Medical Genomics, Key Laboratory of Cell Biology, Ministry of Public Health and Key Laboratory of Medical Cell Biology, Ministry of Education, China Medical University, Shenyang 110001, China.

Gene
|September 24, 2013
PubMed

Keywords:
HOXHOXD13HomeodomainLimb malformationMut FMut RMutational screeningOMIMOnline Mendelian Inheritance in ManPVDFRT-PCRSDSSPDSyndactylyhomeobox gene D13homeobox-containingmutation forwardmutation reversepolyvinylidene difluoridereverse transcription-polymerase chain reactionsodium dodecyl sulfatesynpolydactyly

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