The clinical picture of the Börjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations.
Turner G, Lower KM, White SM, Delatycki M, Lampe AK, Wright M, Smith JC, Kerr B, Schelley S, Hoyme HE, De Vries BB, Kleefstra T, Grompe M, Cox B, Gecz J, Partington M.
Turner G, et al.
Clin Genet. 2004 Mar;65(3):226-32. doi: 10.1111/j.0009-9163.2004.00215.x.
Clin Genet. 2004.
PMID: 14756673