1024C>T (R342X) is a recurrent PHF6 mutation also found in the original Borjeson-Forssman-Lehmann syndrome family.

Karen Lower; G Solders; M-L Bondeson; J Nelson; A Brun; Jo Crawford; G Malm; M Borjeson; Gillian Turner; Michael Partington; Jozef Gecz

1024C>T (R342X) is a recurrent PHF6 mutation also found in the original Borjeson-Forssman-Lehmann syndrome family.

Karen Lower, G Solders, M-L Bondeson, J Nelson, A Brun, Jo Crawford, G Malm, M Borjeson, Gillian Turner, Michael Partington, Jozef Gecz

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

27 Citations (Scopus)

Original language	English
Pages (from-to)	787-789
Number of pages	3
Journal	European Journal of Human Genetics
Volume	12
Publication status	Published - 2004

Cite this

@article{68a0cc1094274596a38c9c8373c16fa6,

title = "1024C>T (R342X) is a recurrent PHF6 mutation also found in the original Borjeson-Forssman-Lehmann syndrome family.",

author = "Karen Lower and G Solders and M-L Bondeson and J Nelson and A Brun and Jo Crawford and G Malm and M Borjeson and Gillian Turner and Michael Partington and Jozef Gecz",

year = "2004",

language = "English",

volume = "12",

pages = "787--789",

journal = "European Journal of Human Genetics",

issn = "1018-4813",

publisher = "Springer Nature",

}

TY - JOUR

T1 - 1024C>T (R342X) is a recurrent PHF6 mutation also found in the original Borjeson-Forssman-Lehmann syndrome family.

AU - Lower, Karen

AU - Solders, G

AU - Bondeson, M-L

AU - Nelson, J

AU - Brun, A

AU - Crawford, Jo

AU - Malm, G

AU - Borjeson, M

AU - Turner, Gillian

AU - Partington, Michael

AU - Gecz, Jozef

PY - 2004

Y1 - 2004

M3 - Article

SN - 1018-4813

VL - 12

SP - 787

EP - 789

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

ER -