Ataxia-pancytopenia syndrome is an autosomal dominant disorder caused by mutations of the SAMD9L gene.
1. |
Li FP et al. (1978) A family with acute leukemia, hypoplastic anemia and cerebellar ataxia: association with bone marrow C-monosomy. |
2. |
Chen DH et al. (2016) Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L. |
3. |
Daghistani D et al. (1989) Ataxia-pancytopenia and monosomy 7 syndrome. |
4. |
Li FP et al. (1981) Ataxia-pancytopenia: syndrome of cerebellar ataxia, hypoplastic anemia, monosomy 7, and acute myelogenous leukemia. |
5. |
González-del Angel A et al. (2000) Ataxia-pancytopenia syndrome. |
6. |
Kirwan M et al. (2008) Dyskeratosis congenita: a genetic disorder of many faces. |