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Results 1 - 4 of 4 for Split "hand-foot" malformation 1
  1. Chromosome 17 
    ... Graham GE. 17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD). Eur J Hum Genet. 2011 Nov;19(11):1144-51. doi: 10.1038/ejhg.2011.97. Epub 2011 Jun 1. Citation on PubMed Baker EK, Brewer CJ, Ferreira ...
    https://medlineplus.gov/genetics/chromosome/17 - Genetics
  2. TP63 gene 
    ... competing protein ... missense mutations in the SAM domain of p63. Hum Mol Genet. 2001 Feb 1;10(3):221-9. doi: 10.1093/hmg/ ...
    https://medlineplus.gov/genetics/gene/tp63 - Genetics
  3. Hartsfield syndrome 
    ... making a protein called fibroblast growth factor receptor 1 (FGFR1). This receptor interacts with ... Citation on PubMed
    https://medlineplus.gov/genetics/condition/hartsfield-syndrome - Genetics
  4. FGFR1 gene 
    ... making a protein called fibroblast growth factor receptor 1 (FGFR1). This ... and feet called split hand/foot. Some of these variants affect one of the ...
    https://medlineplus.gov/genetics/gene/fgfr1 - Genetics