Journal article

Three Mendelian disorders (chronic granulomatous disease, retinitis pigmentosa, ornithine transcarbamylase deficiency) in a young woman with an X chromosome deletion, del(X) (p11.4p21.1)

David Coman, Joy Yaplito-Lee, Phung La, Steven Nasioulas, Damien Bruno, Howard R Slater, Sharyn E Stock-Myer, Elly L Lynch, RJ McKinlay Gardner

Molecular Genetics and Metabolism | ACADEMIC PRESS INC ELSEVIER SCIENCE | Published : 2010