| 1 | BDE2, PTHLH |
| Deletion and point mutations of PTHLH cause brachydactyly type E. | |
| Klopocki E, Hennig BP, Dathe K, Koll R, de Ravel T, Baten E, Blom E, Gillerot Y, Weigel JF, Krüger G, Hiort O, Seemann P, Mundlos S. | |
| Am J Hum Genet 86(3):434-9. Epub 2010 Feb 18.PMID: 20170896 2010 | |