Mutation screening in Borjeson-Forssman-Lehmann syndrome: Identification of a novel, de novo PHF6 mutation in a female patient

Jo Crawford, Karen Lower, R Hennekam, H van Esch, A Megarbane, SA Lynch, Gillian Turner, Jozef Gecz

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

43 Citations (Scopus)

Cite this

@article{e1767f615bd24cffa2fb429c226bbfad,

title = "Mutation screening in Borjeson-Forssman-Lehmann syndrome: Identification of a novel, de novo PHF6 mutation in a female patient",

author = "Jo Crawford and Karen Lower and R Hennekam and {van Esch}, H and A Megarbane and SA Lynch and Gillian Turner and Jozef Gecz",

year = "2006",

language = "English",

volume = "43",

pages = "238--243",

journal = "Journal of Medical Genetics",

issn = "0022-2593",

publisher = "BMJ PUBLISHING",

number = "3",

}

TY - JOUR

T1 - Mutation screening in Borjeson-Forssman-Lehmann syndrome: Identification of a novel, de novo PHF6 mutation in a female patient

AU - Crawford, Jo

AU - Lower, Karen

AU - Hennekam, R

AU - van Esch, H

AU - Megarbane, A

AU - Lynch, SA

AU - Turner, Gillian

AU - Gecz, Jozef

PY - 2006

Y1 - 2006

M3 - Article

SN - 0022-2593

VL - 43

SP - 238

EP - 243

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

IS - 3

ER -