Severe hypohidrotic ectodermal dysplasia in a girl caused by a de novo 9;X insertion that includes XIST and disrupts the EDA gene
Karen Helene Ørstavik, Gun Peggy S. Knudsen, Hilde Nordgarden, Eli Ormerod, Petter Strømme, Lazarous P. Lazarou, Lyndon G. Rosser, Trine Prescott, Gunnar HougeVolume:
143A
Year:
2007
Language:
english
Pages:
4
DOI:
10.1002/ajmg.a.31797
File:
PDF, 158 KB
english, 2007