| 1 | PAPPAS, TBX4 |
| A newly recognized multiple malformation syndrome with caudal regression associated with a biallelic c.402G>A variant in TBX4. | |
| Ranganath P, Perala S, Nair L, Pamu PK, Shankar A, Murugan S, Dalal A. | |
| Eur J Hum Genet ur J Hum Genet. 2020 Jan 21. doi: 10.1038/s41431-020-0572-5. [Epub ahead of print] 2020 | |
| 2 | FGF10, PAPPAS, PTLAH, RSPO2, TBX4 |
| Homozygous Null TBX4 Mutations Lead to Posterior Amelia with Pelvic and Pulmonary Hypoplasia. | |
| Kariminejad A, Szenker-Ravi E, Lekszas C, Tajsharghi H, Moslemi AR, Naert T, Tran HT, Ahangari F, Rajaei M, Nasseri M, Haaf T, Azad A, Superti-Furga A, Maroofian R, Ghaderi-Sohi S, Najmabadi H, Abbaszadegan MR, Vleminckx K, Nikuei P, Reversade B. | |
| Am J Hum Genet 105(6):1294-1301. doi: 10.1016/j.ajhg.2019.10.013. Epub 2019 Nov 21. 2019 | |
| 3 | PAPPAS |
| New autosomal recessive form of amelia. | |
| Michaud J, Filiatrault D, Dallaire L, Lambert M. | |
| Am J Med Genet 56(2):164-7. Review. 1995 | |