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A novel 9 bp deletion in the filamin a gene causes an otopalatodigital-spectrum disorder with a variable, intermediate phenotype.

Standard

A novel 9 bp deletion in the filamin a gene causes an otopalatodigital-spectrum disorder with a variable, intermediate phenotype. / Stefanova, Margarita; Meinecke, Peter; Gal, Andreas; Bolz, Hanno.

in: AM J MED GENET A, Jahrgang 132, Nr. 4, 4, 2005, S. 386-390.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Stefanova, M, Meinecke, P, Gal, A & Bolz, H 2005, 'A novel 9 bp deletion in the filamin a gene causes an otopalatodigital-spectrum disorder with a variable, intermediate phenotype.', AM J MED GENET A, Jg. 132, Nr. 4, 4, S. 386-390. <http://www.ncbi.nlm.nih.gov/pubmed/15654694?dopt=Citation>

APA

Stefanova, M., Meinecke, P., Gal, A., & Bolz, H. (2005). A novel 9 bp deletion in the filamin a gene causes an otopalatodigital-spectrum disorder with a variable, intermediate phenotype. AM J MED GENET A, 132(4), 386-390. [4]. http://www.ncbi.nlm.nih.gov/pubmed/15654694?dopt=Citation

Vancouver

Stefanova M, Meinecke P, Gal A, Bolz H. A novel 9 bp deletion in the filamin a gene causes an otopalatodigital-spectrum disorder with a variable, intermediate phenotype. AM J MED GENET A. 2005;132(4):386-390. 4.

Bibtex

@article{d8238cfc792a49698a66e6b3bb1efb48,
title = "A novel 9 bp deletion in the filamin a gene causes an otopalatodigital-spectrum disorder with a variable, intermediate phenotype.",
abstract = "We report a four-generation pedigree with six affected females with cranial hyperostosis and various skeletal abnormalities. The phenotype is similar to frontometaphyseal dysplasia, which is part of the otopalatodigital (OPD) spectrum. We identified a novel in-frame deletion in exon 29 of the Filamin A gene (c.4904_4912del, p.R1635_V1637del) encoding rod domain repeat 14 of the protein. The disorder resulted in early lethality in male children. The phenotype of female individuals in this family is variable and rather mild, and bridges the phenotypes of various OPD-spectrum disorders.",
author = "Margarita Stefanova and Peter Meinecke and Andreas Gal and Hanno Bolz",
year = "2005",
language = "Deutsch",
volume = "132",
pages = "386--390",
journal = "AM J MED GENET A",
issn = "1552-4825",
publisher = "Wiley-Liss Inc.",
number = "4",

}

RIS

TY - JOUR

T1 - A novel 9 bp deletion in the filamin a gene causes an otopalatodigital-spectrum disorder with a variable, intermediate phenotype.

AU - Stefanova, Margarita

AU - Meinecke, Peter

AU - Gal, Andreas

AU - Bolz, Hanno

PY - 2005

Y1 - 2005

N2 - We report a four-generation pedigree with six affected females with cranial hyperostosis and various skeletal abnormalities. The phenotype is similar to frontometaphyseal dysplasia, which is part of the otopalatodigital (OPD) spectrum. We identified a novel in-frame deletion in exon 29 of the Filamin A gene (c.4904_4912del, p.R1635_V1637del) encoding rod domain repeat 14 of the protein. The disorder resulted in early lethality in male children. The phenotype of female individuals in this family is variable and rather mild, and bridges the phenotypes of various OPD-spectrum disorders.

AB - We report a four-generation pedigree with six affected females with cranial hyperostosis and various skeletal abnormalities. The phenotype is similar to frontometaphyseal dysplasia, which is part of the otopalatodigital (OPD) spectrum. We identified a novel in-frame deletion in exon 29 of the Filamin A gene (c.4904_4912del, p.R1635_V1637del) encoding rod domain repeat 14 of the protein. The disorder resulted in early lethality in male children. The phenotype of female individuals in this family is variable and rather mild, and bridges the phenotypes of various OPD-spectrum disorders.

M3 - SCORING: Zeitschriftenaufsatz

VL - 132

SP - 386

EP - 390

JO - AM J MED GENET A

JF - AM J MED GENET A

SN - 1552-4825

IS - 4

M1 - 4

ER -