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In adolescent or older patients, this phenotype overlaps but is not identical with Borjeson\u2013Forssman\u2013Lehmann syndrome in males, caused by X\u2010linked recessive mutations in <jats:italic>PHF6<\/jats:italic>. In younger girls there seems to be a striking phenotypic overlap with Coffin\u2013Siris syndrome, which is characterized by intellectual disability, sparse hair and hypoplastic nails. This review will summarize and characterize the female phenotype caused by de novo aberrations in <jats:italic>PHF6<\/jats:italic> and will discuss the overlapping and distinguishing features with Coffin\u2013Siris syndrome. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.c.31408","type":"journal-article","created":{"date-parts":[[2014,8,5]],"date-time":"2014-08-05T18:04:48Z","timestamp":1407261888000},"page":"290-301","source":"Crossref","is-referenced-by-count":27,"title":["Females with de novo aberrations in <i>PHF6<\/i>: Clinical overlap of Borjeson\u2013Forssman\u2013Lehmann with Coffin\u2013Siris 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