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

Publikation: Konferencebidrag › Poster › Forskning

Originalsprog	Engelsk
Publikationsdato	6 jun. 2015
Status	Udgivet - 6 jun. 2015
Begivenhed	ESHG 2015: European Society of Human Genetics - Glasgow, Storbritannien Varighed: 6 jun. 2015 → 9 jul. 2015

Konference

Konference	ESHG 2015
Land/Område	Storbritannien
By	Glasgow
Periode	06/06/2015 → 09/07/2015

Citationsformater

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 præsenteret på ESHG 2015, Glasgow, Storbritannien.

@conference{c84110bc413c49c397bb61c412e63cee,

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, Storbritannien, 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 -