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)

✍ Scribed by David Coman; Joy Yaplito-Lee; Phung La; Steven Nasioulas; Damien Bruno; Howard R. Slater; Sharyn E. Stock-Myer; Elly L. Lynch; R.J. McKinlay Gardner

• Book ID: 116988915
• Publisher: Elsevier Science
• Year: 2010
• Tongue: English
• Weight: 110 KB
• Volume: 99
• Category: Article
• ISSN: 1096-7192
• DOI: 10.1016/j.ymgme.2009.11.006