| 1 | PDHA2, SPGF70 |
| Whole-exome sequencing improves the diagnosis and care of men with non-obstructive azoospermia | |
| Kherraf ZE, Cazin C, Bouker A, Fourati Ben Mustapha S, Hennebicq S, Septier A, Coutton C, Raymond L, Nouchy M, Thierry-Mieg N, Zouari R, Arnoult C, Ray PF. | |
| Am J Hum Genet. Mar 3;109(3):508-517. doi: 10.1016/j.ajhg.2022.01.011. Epub 2022 Feb 15. 2022 | |
| 2 | PDHA2, SPGF70 |
| Linked homozygous BMPR1B and PDHA2 variants in a consanguineous family with complex digit malformation and male infertility. | |
| Yıldırım Y, Ouriachi T, Woehlbier U, Ouahioune W, Balkan M, Malik S, Tolun A. | |
| Eur J Hum Genet. Jun;26(6):876-885. doi: 10.1038/s41431-018-0121-7. Epub 2018 Mar 26. 2018 | |