A novel single nucleotide splice site mutation in FHL1 confirms an Emery-Dreifuss plus phenotype with pulmonary artery hypoplasia and facial dysmorphology

Anja Pen; Mette Nyegaard; Mingyan Fang; Hui Jiang; Rikke Christensen; Henning Mølgaard; Henning Andersen; Benedicte Parm Ulhøi; John Rosendahl Østergaard; Signe Væth; Mette Sommerlund; Arjan P.M. de Brouwer; Xuiqing Zhang; Uffe Birk Jensen

A novel single nucleotide splice site mutation in FHL1 confirms an Emery-Dreifuss plus phenotype with pulmonary artery hypoplasia and facial dysmorphology

Anja Pen, Mette Nyegaard, Mingyan Fang, Hui Jiang, Rikke Christensen, Henning Mølgaard, Henning Andersen, Benedicte Parm Ulhøi, John Rosendahl Østergaard, Signe Væth, Mette Sommerlund, Arjan P.M. de Brouwer, Xuiqing Zhang, Uffe Birk Jensen

Research output: Contribution to conference › Poster › Research

12 Citations (Scopus)

Original language	English
Publication date	6 Jun 2015
Publication status	Published - 6 Jun 2015
Event	ESHG 2015: European Society of Human Genetics - Glasgow, United Kingdom Duration: 6 Jun 2015 → 9 Jul 2015

Conference

Conference	ESHG 2015
Country/Territory	United Kingdom
City	Glasgow
Period	06/06/2015 → 09/07/2015

Keywords

FHL1

Cite this

Pen, A., Nyegaard, M., Fang, M., Jiang, H., Christensen, R., Mølgaard, H., Andersen, H., Ulhøi, B. P., Østergaard, J. R., Væth, S., Sommerlund, M., de Brouwer, A. P. M., Zhang, X., & Jensen, U. B. (2015). A novel single nucleotide splice site mutation in FHL1 confirms an Emery-Dreifuss plus phenotype with pulmonary artery hypoplasia and facial dysmorphology. Poster session presented at ESHG 2015, Glasgow, United Kingdom.

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title = "A novel single nucleotide splice site mutation in FHL1 confirms an Emery-Dreifuss plus phenotype with pulmonary artery hypoplasia and facial dysmorphology",

keywords = "FHL1",

author = "Anja Pen and Mette Nyegaard and Mingyan Fang and Hui Jiang and Rikke Christensen and Henning M{\o}lgaard and Henning Andersen and Ulh{\o}i, {Benedicte Parm} and {\O}stergaard, {John Rosendahl} and Signe V{\ae}th and Mette Sommerlund and {de Brouwer}, {Arjan P.M.} and Xuiqing Zhang and Jensen, {Uffe Birk}",

year = "2015",

month = jun,

day = "6",

language = "English",

note = "ESHG 2015 : European Society of Human Genetics ; Conference date: 06-06-2015 Through 09-07-2015",

}

Pen, A, Nyegaard, M, Fang, M, Jiang, H, Christensen, R , Mølgaard, H , Andersen, H, Ulhøi, BP, Østergaard, JR, Væth, S , Sommerlund, M, de Brouwer, APM, Zhang, X & Jensen, UB 2015, 'A novel single nucleotide splice site mutation in FHL1 confirms an Emery-Dreifuss plus phenotype with pulmonary artery hypoplasia and facial dysmorphology', ESHG 2015, Glasgow, United Kingdom, 06/06/2015 - 09/07/2015.

TY - CONF

T1 - A novel single nucleotide splice site mutation in FHL1 confirms an Emery-Dreifuss plus phenotype with pulmonary artery hypoplasia and facial dysmorphology

AU - Pen, Anja

AU - Nyegaard, Mette

AU - Fang, Mingyan

AU - Jiang, Hui

AU - Christensen, Rikke

AU - Mølgaard, Henning

AU - Andersen, Henning

AU - Ulhøi, Benedicte Parm

AU - Østergaard, John Rosendahl

AU - Væth, Signe

AU - Sommerlund, Mette

AU - de Brouwer, Arjan P.M.

AU - Zhang, Xuiqing

AU - Jensen, Uffe Birk

PY - 2015/6/6

Y1 - 2015/6/6

KW - FHL1

M3 - Poster

T2 - ESHG 2015

Y2 - 6 June 2015 through 9 July 2015

ER -