| 1 | DCHS1, VMLDS1 |
| A patient with van Maldergem syndrome with endocrine abnormalities, hypogonadotropic hypogonadism, and breast aplasia/hypoplasia | |
| Sotos J, Miller K, Corsmeier D, Tokar N, Kelly B, Nadella V, Zhong H, Wetzel A, Adler B, Yu CY, White P. | |
| Int J Pediatr Endocrinol. ;2017:12. doi: 10.1186/s13633-017-0052-z. Epub 2017 Oct 13. 2017 | |
| 2 | DCHS1, VMLDS1 |
| Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance | |
| Mansour S, Swinkels M, Terhal PA, Wilson LC, Rich P, Van Maldergem L, Zwijnenburg PJ, Hall CM, Robertson SP, Newbury-Ecob R. | |
| Eur J Hum Genet. Oct;20(10):1024-31. doi: 10.1038/ejhg.2012.57. Epub 2012 Apr 4. 2012 | |