Badens, Catherine

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