The PHF6 Mutation c.1A>G; pM1V Causes Börjeson-Forsman-Lehmann Syndrome in a Family with Four Affected Young Boys

Anja Ernst; Vang Quy Le; Allan Thomas Højland; Inge Søkilde Pedersen; Tine Høg Sørensen; Lise Lotte Bjerregaard; Troels JB Lyngbye; Ninna Marturin  Gammelager; Henrik Krarup; Michael Bjørn Petersen

doi:10.1159/000441047

The PHF6 Mutation c.1A>G; pM1V Causes Börjeson-Forsman-Lehmann Syndrome in a Family with Four Affected Young Boys

Anja Ernst, Vang Quy Le, Allan Thomas Højland, Inge Søkilde Pedersen, Tine Høg Sørensen, Lise Lotte Bjerregaard, Troels JB Lyngbye, Ninna Marturin Gammelager, Henrik Krarup, Michael Bjørn Petersen

Research output: Contribution to journal › Journal article › Research › peer-review

7 Citations (Scopus)

Original language	English
Journal	Molecular Syndromology
Volume	6
Issue number	4
Pages (from-to)	181-186
Number of pages	6
ISSN	1661-8769
DOIs	https://doi.org/10.1159/000441047
Publication status	Published - 2015

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@article{f57175b1735c473884b1ebedfe6e6ea5,

title = "The PHF6 Mutation c.1A>G; pM1V Causes B{\"o}rjeson-Forsman-Lehmann Syndrome in a Family with Four Affected Young Boys",

author = "Anja Ernst and Le, {Vang Quy} and H{\o}jland, {Allan Thomas} and Pedersen, {Inge S{\o}kilde} and S{\o}rensen, {Tine H{\o}g} and Bjerregaard, {Lise Lotte} and Lyngbye, {Troels JB} and Gammelager, {Ninna Marturin} and Henrik Krarup and Petersen, {Michael Bj{\o}rn}",

year = "2015",

doi = "10.1159/000441047",

language = "English",

volume = "6",

pages = "181--186",

journal = "Molecular Syndromology",

issn = "1661-8769",

publisher = "S. Karger AG",

number = "4",

}

TY - JOUR

T1 - The PHF6 Mutation c.1A>G; pM1V Causes Börjeson-Forsman-Lehmann Syndrome in a Family with Four Affected Young Boys

AU - Ernst, Anja

AU - Le, Vang Quy

AU - Højland, Allan Thomas

AU - Pedersen, Inge Søkilde

AU - Sørensen, Tine Høg

AU - Bjerregaard, Lise Lotte

AU - Lyngbye, Troels JB

AU - Gammelager, Ninna Marturin

AU - Krarup, Henrik

AU - Petersen, Michael Bjørn

PY - 2015

Y1 - 2015

U2 - 10.1159/000441047

DO - 10.1159/000441047

M3 - Journal article

SN - 1661-8769

VL - 6

SP - 181

EP - 186

JO - Molecular Syndromology

JF - Molecular Syndromology

IS - 4

ER -