| 1 | BHLHA9, MSSD |
| Mutations Affecting the BHLHA9 DNA-Binding Domain Cause MSSD, Mesoaxial Synostotic Syndactyly with Phalangeal Reduction, Malik-Percin Type. | |
| Malik S, Percin FE, Bornholdt D, Albrecht B, Percesepe A, Koch MC, Landi A, Fritz B, Khan R, Mumtaz S, Akarsu NA, Grzeschik KH. | |
| Am J Hum Genet 95(6):649-59. doi: 10.1016/j.ajhg.2014.10.012. Epub 2014 Nov 13. 2014 | |
| 2 | BHLHA9, MSSD, SHFM10 |
| Gene dosage of the transcription factor Fingerin (bHLHA9) affects digit development and links syndactyly to ectrodactyly. | |
| Schatz O, Langer E, Ben-Arie N. | |
| Hum Mol Genet 23(20):5394-401. doi: 10.1093/hmg/ddu257. Epub 2014 May 22. 2014 | |
| 3 | MSSD |
| Autosomal recessive mesoaxial synostotic syndactyly with phalangeal reduction maps to chromosome 17p13.3. | |
| Malik S, Percin FE, Ahmad W, Percin S, Akarsu NA, Koch MC, Grzeschik KH. | |
| Am J Med Genet A 134(4):404-8. 2005 | |