Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome.
Lower KM; Turner G; Kerr BA; Mathews KD; Shaw MA; Gedeon AK; Schelley S; Hoyme HE; White SM; Delatycki MB; Lampe AK; Clayton-Smith J; Stewart H; van Ravenswaay CM; de Vries BB; Cox B; Grompe M; Ross S; Thomas P; Mulley JC; Gécz J; Nature Genetics, 2002, vol. 32, issue 4, p 661, ISSN 10614036. ISBN 10614036.

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