Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors

CL Navarro; J Cadinanos; AD Sandre-Giovannoli; R Bernard; S Courrier; I Boccaccio; A Boyer; WJ (Wim) Kleijer; Anja Wagner; F Giuliano; FA Beemer; JM Freije; P Cau; RCM Hennekam; C Lopez-Otin; C Badens; N Levy

doi:10.1093/hmg/ddi159

Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors

CL Navarro, J Cadinanos, AD Sandre-Giovannoli, R Bernard, S Courrier, I Boccaccio, A Boyer, WJ (Wim) Kleijer, Anja Wagner, F Giuliano, FA Beemer, JM Freije, P Cau, RCM Hennekam, C Lopez-Otin, C Badens, N Levy

Clinical Genetics

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

234 Citations (Scopus)

Original language	Undefined/Unknown
Pages (from-to)	1503-1513
Number of pages	11
Journal	Human Molecular Genetics
Volume	14
Issue number	11
DOIs	https://doi.org/10.1093/hmg/ddi159
Publication status	Published - 2005

Access to Document

10.1093/hmg/ddi159

http://hdl.handle.net/1765/55779

Cite this

Navarro, CL., Cadinanos, J., Sandre-Giovannoli, AD., Bernard, R., Courrier, S., Boccaccio, I., Boyer, A., Kleijer, WJ., Wagner, A., Giuliano, F., Beemer, FA., Freije, JM., Cau, P., Hennekam, RCM., Lopez-Otin, C., Badens, C., & Levy, N. (2005). Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors. Human Molecular Genetics, 14(11), 1503-1513. https://doi.org/10.1093/hmg/ddi159

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title = "Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors",

author = "CL Navarro and J Cadinanos and AD Sandre-Giovannoli and R Bernard and S Courrier and I Boccaccio and A Boyer and Kleijer, {WJ (Wim)} and Anja Wagner and F Giuliano and FA Beemer and JM Freije and P Cau and RCM Hennekam and C Lopez-Otin and C Badens and N Levy",

year = "2005",

doi = "10.1093/hmg/ddi159",

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Navarro, CL, Cadinanos, J, Sandre-Giovannoli, AD, Bernard, R, Courrier, S, Boccaccio, I, Boyer, A, Kleijer, WJ, Wagner, A, Giuliano, F, Beemer, FA, Freije, JM, Cau, P, Hennekam, RCM, Lopez-Otin, C, Badens, C & Levy, N 2005, 'Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors', Human Molecular Genetics, vol. 14, no. 11, pp. 1503-1513. https://doi.org/10.1093/hmg/ddi159

TY - JOUR

T1 - Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors

AU - Navarro, CL

AU - Cadinanos, J

AU - Sandre-Giovannoli, AD

AU - Bernard, R

AU - Courrier, S

AU - Boccaccio, I

AU - Boyer, A

AU - Kleijer, WJ (Wim)

AU - Wagner, Anja

AU - Giuliano, F

AU - Beemer, FA

AU - Freije, JM

AU - Cau, P

AU - Hennekam, RCM

AU - Lopez-Otin, C

AU - Badens, C

AU - Levy, N

PY - 2005

Y1 - 2005

U2 - 10.1093/hmg/ddi159

DO - 10.1093/hmg/ddi159

M3 - Article

VL - 14

SP - 1503

EP - 1513

JO - Human Molecular Genetics

JF - Human Molecular Genetics

SN - 0964-6906

IS - 11

ER -