Mutations in PHF6 are associated with Börjeson–Forssman–Lehmann syndrome

Karen Lower; Gillian Turner; B Kerr; KD Mathews; MA Shaw; AK Gedeon; S Schelley; HE Hoyme; SM White; Martin Delatycki; AK Lampe; J Clayton-Smith; H Stewart; CM van Ravenswaay; BB De Vries; B Cox; M Grompe; S Ross; P Thomas; JC Mulley; Jozef Gecz

Mutations in PHF6 are associated with Börjeson–Forssman–Lehmann syndrome

Karen Lower
, Gillian Turner
, B Kerr
, KD Mathews
, MA Shaw
, AK Gedeon
, S Schelley
, HE Hoyme
, SM White
, Martin Delatycki
, AK Lampe
, J Clayton-Smith
, H Stewart
, CM van Ravenswaay
, BB De Vries
, B Cox
, M Grompe
, S Ross
, P Thomas
, JC Mulley

Jozef Gecz

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

200 Citations (Scopus)

Original language	English
Pages (from-to)	661-665
Number of pages	5
Journal	Nature Genetics
Volume	32
Publication status	Published - 2002

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

Cite this

Lower, K., Turner, G., Kerr, B., Mathews, KD., Shaw, MA., Gedeon, AK., Schelley, S., Hoyme, HE., White, SM., Delatycki, M., Lampe, AK., Clayton-Smith, J., Stewart, H., van Ravenswaay, CM., De Vries, BB., Cox, B., Grompe, M., Ross, S., Thomas, P., ... Gecz, J. (2002). Mutations in PHF6 are associated with Börjeson–Forssman–Lehmann syndrome. Nature Genetics, 32, 661-665.

@article{204ccce2f5f2455fad3377fd6a9f0d7b,

title = "Mutations in PHF6 are associated with B{\"o}rjeson–Forssman–Lehmann syndrome",

author = "Karen Lower and Gillian Turner and B Kerr and KD Mathews and MA Shaw and AK Gedeon and S Schelley and HE Hoyme and SM White and Martin Delatycki and AK Lampe and J Clayton-Smith and H Stewart and \{van Ravenswaay\}, CM and \{De Vries\}, BB and B Cox and M Grompe and S Ross and P Thomas and JC Mulley and Jozef Gecz",

year = "2002",

language = "English",

volume = "32",

pages = "661--665",

journal = "Nature Genetics",

issn = "1061-4036",

publisher = "Nature Research",

}

Lower, K, Turner, G, Kerr, B, Mathews, KD, Shaw, MA, Gedeon, AK, Schelley, S, Hoyme, HE, White, SM, Delatycki, M, Lampe, AK, Clayton-Smith, J, Stewart, H, van Ravenswaay, CM, De Vries, BB, Cox, B, Grompe, M, Ross, S, Thomas, P, Mulley, JC & Gecz, J 2002, 'Mutations in PHF6 are associated with Börjeson–Forssman–Lehmann syndrome', Nature Genetics, vol. 32, pp. 661-665.

TY - JOUR

T1 - Mutations in PHF6 are associated with Börjeson–Forssman–Lehmann syndrome

AU - Lower, Karen

AU - Turner, Gillian

AU - Kerr, B

AU - Mathews, KD

AU - Shaw, MA

AU - Gedeon, AK

AU - Schelley, S

AU - Hoyme, HE

AU - White, SM

AU - Delatycki, Martin

AU - Lampe, AK

AU - Clayton-Smith, J

AU - Stewart, H

AU - van Ravenswaay, CM

AU - De Vries, BB

AU - Cox, B

AU - Grompe, M

AU - Ross, S

AU - Thomas, P

AU - Mulley, JC

AU - Gecz, Jozef

PY - 2002

Y1 - 2002

M3 - Article

SN - 1061-4036

VL - 32

SP - 661

EP - 665

JO - Nature Genetics

JF - Nature Genetics

ER -