Author:
Lower Karen M,Solders Göran,Bondeson Marie-Louise,Nelson John,Brun Arne,Crawford Joanna,Malm Gunilla,Börjeson Mats,Turner Gillian,Partington Michael,Gécz Jozef
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Reference8 articles.
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2. Brun A, Börjeson M, Forssman H : An inherited syndrome with mental deficiency and endocrine disorder. A patho-anatomical study. J Ment Defic Res 1974; 18: 317–325.
3. Lower KM, Turner G, Kerr BA et al: Mutations in PHF6 are associated with Börjeson–Forssman–Lehmann syndrome. Nat Genet 2002; 32: 661–665.
4. Turner G, Gedeon A, Mulley J et al: Börjeson–Forssman–Lehmann syndrome: clinical manifestations and gene localization to Xq26-27. Am J Med Genet 1989; 34: 463–469.
5. Turner G, Lower KM, White SM et al: The clinical picture of the Börjeson–Forssman–Lehmann syndrome in males and heterozygous females with PHF6 mutations. Clin Genet 2004; 65: 226–232.
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