Aleksander Jamsheer Anna Sowińska Leszek Kaczmarek Anna Latos-Bieleńska
10.1186/1471-2350-13-4
BMC Med Genet
2012 Jan 10;13:4.
CC BY
https://pubmed.ncbi.nlm.nih.gov/22233338/
Brachydactyly / genetics Codon, Nonsense Homeodomain Proteins / genetics Transcription Factors / genetics
Brachydactyly / genetics Codon, Nonsense Homeodomain Proteins / genetics Transcription Factors / genetics Case Reports Research Support, Non-U.S. Gov't Adult Child Female Humans Male Codon, Nonsense HOXD13 protein, human Homeodomain Proteins Transcription Factors
PMC3278352
22233338
Isolated brachydactyly type E caused by a HOXD13 nonsense mutation: a case report
2012