ATRX syndrome in a girl with a heterozygous mutation in the ATRX Zn finger domain and a totally skewed X-inactivation pattern. [electronic resource]
- American journal of medical genetics. Part A Oct 2006
- 2212-5 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1552-4825
10.1002/ajmg.a.31400 doi
Child, Preschool DNA Helicases--genetics Female Humans X-Linked Intellectual Disability--genetics Mutation--genetics Nuclear Proteins--genetics Trinucleotide Repeats--genetics X Chromosome Inactivation--genetics X-linked Nuclear Protein alpha-Thalassemia--genetics