ATRX
XH2, XNP
Pathology
germline mutation in
- ATR-X syndrome (MIM.301040) (X-linked alpha-thalassemia retardation syndrome)
- Juberg-Marsidi syndrome (MIM.309590)
- Smith-Fineman-Myers type of mental retardation (MIM.309580)
References
Tang P, Park DJ, Marshall Graves JA, Harley VR. ATRX and sex differentiation. Trends Endocrinol Metab. 2004 Sep;15(7):339-44. PMID: 15350606