A novel homozygous 5 bp deletion in FKBP10 causes clinically Bruck syndrome in an Indonesian patient

E.D. Setijowati; F.S. van Dijk; J.M. Cobben; R.R. Van Rijn; E.A. Sistermans; S.M.H. Faradz; S. Kawiyana; G. Pals

doi:10.1016/j.ejmg.2011.10.002

A novel homozygous 5 bp deletion in FKBP10 causes clinically Bruck syndrome in an Indonesian patient

E.D. Setijowati, F.S. van Dijk, J.M. Cobben, R.R. Van Rijn, E.A. Sistermans, S.M.H. Faradz, S. Kawiyana, G. Pals

Clinical genetics

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

Original language	Undefined/Unknown
Pages (from-to)	17-21
Journal	European Journal of Medical Genetics
Volume	55
Issue number	1
DOIs	https://doi.org/10.1016/j.ejmg.2011.10.002
Publication status	Published - 2012

Access to Document

10.1016/j.ejmg.2011.10.002

Cite this

@article{ac09cbc8f6534ed1b00cb465281cd4ad,

title = "A novel homozygous 5 bp deletion in FKBP10 causes clinically Bruck syndrome in an Indonesian patient",

author = "E.D. Setijowati and {van Dijk}, F.S. and J.M. Cobben and {Van Rijn}, R.R. and E.A. Sistermans and S.M.H. Faradz and S. Kawiyana and G. Pals",

year = "2012",

doi = "10.1016/j.ejmg.2011.10.002",

language = "Undefined/Unknown",

volume = "55",

pages = "17--21",

journal = "European Journal of Medical Genetics",

issn = "1769-7212",

publisher = "Elsevier Masson SAS",

number = "1",

}

A novel homozygous 5 bp deletion in FKBP10 causes clinically Bruck syndrome in an Indonesian patient. / Setijowati, E.D.; van Dijk, F.S.; Cobben, J.M.; Van Rijn, R.R.; Sistermans, E.A.; Faradz, S.M.H.; Kawiyana, S.; Pals, G.

In: European Journal of Medical Genetics, Vol. 55, No. 1, 2012, p. 17-21.

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

TY - JOUR

T1 - A novel homozygous 5 bp deletion in FKBP10 causes clinically Bruck syndrome in an Indonesian patient

AU - Setijowati, E.D.

AU - van Dijk, F.S.

AU - Cobben, J.M.

AU - Van Rijn, R.R.

AU - Sistermans, E.A.

AU - Faradz, S.M.H.

AU - Kawiyana, S.

AU - Pals, G.

PY - 2012

Y1 - 2012

U2 - 10.1016/j.ejmg.2011.10.002

DO - 10.1016/j.ejmg.2011.10.002

M3 - Article

C2 - 22085994

VL - 55

SP - 17

EP - 21

JO - European Journal of Medical Genetics

JF - European Journal of Medical Genetics

SN - 1769-7212

IS - 1

ER -