The clinical picture of the Borjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations.

Gillian Turner; Karen Lower; SL White; Martin Delatycki; AK Lampe; M Wright; JC Smith; B Kerr; S Schelley; HE Hoyme; BB De Vries; T Kleefstra; M Grompe; B Cox; Jozef Gecz; Michael Partington

The clinical picture of the Borjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations.

Gillian Turner, Karen Lower, SL White, Martin Delatycki, AK Lampe, M Wright, JC Smith, B Kerr, S Schelley, HE Hoyme, BB De Vries, T Kleefstra, M Grompe, B Cox, Jozef Gecz, Michael Partington

Research output: Contribution to journal › Article › peer-review

65 Citations (Scopus)

Original language	English
Pages (from-to)	226-232
Number of pages	7
Journal	Clinical Genetics
Volume	65
Issue number	3
Publication status	Published - 2004

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@article{2ec6f8b826e9473d867e9c9e3d5d5881,

title = "The clinical picture of the Borjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations.",

author = "Gillian Turner and Karen Lower and SL White and Martin Delatycki and AK Lampe and M Wright and JC Smith and B Kerr and S Schelley and HE Hoyme and {De Vries}, BB and T Kleefstra and M Grompe and B Cox and Jozef Gecz and Michael Partington",

year = "2004",

language = "English",

volume = "65",

pages = "226--232",

journal = "Clinical Genetics",

issn = "0009-9163",

publisher = "Wiley-Blackwell Publishing Ltd",

number = "3",

}

TY - JOUR

T1 - The clinical picture of the Borjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations.

AU - Turner, Gillian

AU - Lower, Karen

AU - White, SL

AU - Delatycki, Martin

AU - Lampe, AK

AU - Wright, M

AU - Smith, JC

AU - Kerr, B

AU - Schelley, S

AU - Hoyme, HE

AU - De Vries, BB

AU - Kleefstra, T

AU - Grompe, M

AU - Cox, B

AU - Gecz, Jozef

AU - Partington, Michael

PY - 2004

Y1 - 2004

UR - http://onlinelibrary.wiley.com/doi/10.1111/j.0009-9163.2004.00215.x/abstract

M3 - Article

SN - 0009-9163

VL - 65

SP - 226

EP - 232

JO - Clinical Genetics

JF - Clinical Genetics

IS - 3

ER -

The clinical picture of the Borjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations.

UN SDGs

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