Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome

JC Czeschik; C Voigt; Y Alanay; B Albrecht; S Avci; D FitzPatrick; DR Goudie; U Hehr; Jeannette Hoogeboom; H Kayserili; PO Simsek-Kiper; L Klein-Hitpass; A Kuechler; V Lopez-Gonzalez; MA Martin; S Rahmann; B Schweiger; M Splitt; B Wollnik; HJ Ludecke; M Zeschnigk; D Wieczorek

doi:10.1007/s00439-013-1295-2

Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome

JC Czeschik, C Voigt, Y Alanay, B Albrecht, S Avci, D FitzPatrick, DR Goudie, U Hehr, Jeannette Hoogeboom, H Kayserili, PO Simsek-Kiper, L Klein-Hitpass, A Kuechler, V Lopez-Gonzalez, MA Martin, S Rahmann, B Schweiger, M Splitt, B Wollnik, HJ LudeckeM Zeschnigk, D Wieczorek

Clinical Genetics

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

63 Citations (Scopus)

Original language	Undefined/Unknown
Pages (from-to)	885-898
Number of pages	14
Journal	Human Genetics
Volume	132
Issue number	8
DOIs	https://doi.org/10.1007/s00439-013-1295-2
Publication status	Published - 2013

Research programs

EMC MGC-02-96-01

Access to Document

10.1007/s00439-013-1295-2

http://hdl.handle.net/1765/63974

Cite this

Czeschik, JC., Voigt, C., Alanay, Y., Albrecht, B., Avci, S., FitzPatrick, D., Goudie, DR., Hehr, U., Hoogeboom, J., Kayserili, H., Simsek-Kiper, PO., Klein-Hitpass, L., Kuechler, A., Lopez-Gonzalez, V., Martin, MA., Rahmann, S., Schweiger, B., Splitt, M., Wollnik, B., ... Wieczorek, D. (2013). Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome. Human Genetics, 132(8), 885-898. https://doi.org/10.1007/s00439-013-1295-2

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doi = "10.1007/s00439-013-1295-2",

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Czeschik, JC, Voigt, C, Alanay, Y, Albrecht, B, Avci, S, FitzPatrick, D, Goudie, DR, Hehr, U, Hoogeboom, J, Kayserili, H, Simsek-Kiper, PO, Klein-Hitpass, L, Kuechler, A, Lopez-Gonzalez, V, Martin, MA, Rahmann, S, Schweiger, B, Splitt, M, Wollnik, B, Ludecke, HJ, Zeschnigk, M & Wieczorek, D 2013, 'Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome', Human Genetics, vol. 132, no. 8, pp. 885-898. https://doi.org/10.1007/s00439-013-1295-2

TY - JOUR

T1 - Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome

AU - Czeschik, JC

AU - Voigt, C

AU - Alanay, Y

AU - Albrecht, B

AU - Avci, S

AU - FitzPatrick, D

AU - Goudie, DR

AU - Hehr, U

AU - Hoogeboom, Jeannette

AU - Kayserili, H

AU - Simsek-Kiper, PO

AU - Klein-Hitpass, L

AU - Kuechler, A

AU - Lopez-Gonzalez, V

AU - Martin, MA

AU - Rahmann, S

AU - Schweiger, B

AU - Splitt, M

AU - Wollnik, B

AU - Ludecke, HJ

AU - Zeschnigk, M

AU - Wieczorek, D

PY - 2013

Y1 - 2013

U2 - 10.1007/s00439-013-1295-2

DO - 10.1007/s00439-013-1295-2

M3 - Article

C2 - 23568615

SN - 0340-6717

VL - 132

SP - 885

EP - 898

JO - Human Genetics

JF - Human Genetics

IS - 8

ER -