The Börjeson-Forssman-Lehman syndrome (BFLS, MIM #301900)

Jozef Gécz; Gillian Turner; John Nelson; Michael Partington

doi:10.1038/sj.ejhg.5201639

The Börjeson-Forssman-Lehman syndrome (BFLS, MIM #301900)

Jozef Gécz, Gillian Turner, John Nelson, Michael Partington

SAHMRI Women And Kids

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

33 Citations (Scopus)

Abstract

Börjeson-Forssman-Lehman syndrome was first described in 1962. Many similar families and isolated cases have been reported since. In nineteen of them, including the original family, the clinical diagnosis was confirmed by the identification of a mutation in the responsible gene, PHF6. Summarizing recent clinical and molecular studies of this X-chromosome linked mental retardation syndrome we aim to offer a useful resource for its identification among the affected male and female subjects.

Original language	English
Pages (from-to)	1233-1237
Number of pages	5
Journal	European Journal of Human Genetics
Volume	14
Issue number	12
DOIs	https://doi.org/10.1038/sj.ejhg.5201639
Publication status	Published - 1 Dec 2006

ASJC Scopus subject areas

Genetics
Genetics(clinical)

Access to Document

10.1038/sj.ejhg.5201639

Link to publication in Scopus

Cite this

@article{244bd18e9a734eddabad1e68b2c279bb,

title = "The B{\"o}rjeson-Forssman-Lehman syndrome (BFLS, MIM #301900)",

abstract = "B{\"o}rjeson-Forssman-Lehman syndrome was first described in 1962. Many similar families and isolated cases have been reported since. In nineteen of them, including the original family, the clinical diagnosis was confirmed by the identification of a mutation in the responsible gene, PHF6. Summarizing recent clinical and molecular studies of this X-chromosome linked mental retardation syndrome we aim to offer a useful resource for its identification among the affected male and female subjects.",

author = "Jozef G{\'e}cz and Gillian Turner and John Nelson and Michael Partington",

year = "2006",

month = dec,

day = "1",

doi = "10.1038/sj.ejhg.5201639",

language = "English",

volume = "14",

pages = "1233--1237",

journal = "European Journal of Human Genetics",

issn = "1018-4813",

publisher = "Nature Publishing Group",

number = "12",

}

TY - JOUR

T1 - The Börjeson-Forssman-Lehman syndrome (BFLS, MIM #301900)

AU - Gécz, Jozef

AU - Turner, Gillian

AU - Nelson, John

AU - Partington, Michael

PY - 2006/12/1

Y1 - 2006/12/1

N2 - Börjeson-Forssman-Lehman syndrome was first described in 1962. Many similar families and isolated cases have been reported since. In nineteen of them, including the original family, the clinical diagnosis was confirmed by the identification of a mutation in the responsible gene, PHF6. Summarizing recent clinical and molecular studies of this X-chromosome linked mental retardation syndrome we aim to offer a useful resource for its identification among the affected male and female subjects.

AB - Börjeson-Forssman-Lehman syndrome was first described in 1962. Many similar families and isolated cases have been reported since. In nineteen of them, including the original family, the clinical diagnosis was confirmed by the identification of a mutation in the responsible gene, PHF6. Summarizing recent clinical and molecular studies of this X-chromosome linked mental retardation syndrome we aim to offer a useful resource for its identification among the affected male and female subjects.

UR - http://www.scopus.com/inward/record.url?scp=33751328324&partnerID=8YFLogxK

U2 - 10.1038/sj.ejhg.5201639

DO - 10.1038/sj.ejhg.5201639

M3 - Article

C2 - 16912705

AN - SCOPUS:33751328324

VL - 14

SP - 1233

EP - 1237

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

SN - 1018-4813

IS - 12

ER -