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Like other disorders associated with an <jats:italic>XNP<\/jats:italic> mutation, skewed X\u2010inactivation was found in all carrier females in this family. Only retrospective examination revealed childhood facial hypotonia and HbH inclusions in some of the affected males. These results expand the spectrum of clinical phenotypes known to be due to mutations in the <jats:italic>XNP<\/jats:italic> gene, and indicate that <jats:italic>XNP<\/jats:italic> mutation analysis should not be restricted to patients with severe MR and characteristic facial features. \u00a9 2002 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.10446","type":"journal-article","created":{"date-parts":[[2002,10,6]],"date-time":"2002-10-06T12:29:56Z","timestamp":1033907396000},"page":"243-247","source":"Crossref","is-referenced-by-count":41,"title":["Expanding phenotype of <i>XNP<\/i> mutations: Mild to moderate mental retardation"],"prefix":"10.1002","volume":"110","author":[{"given":"Helger G.","family":"Yntema","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francis 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