Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia

V. Barca-Tierno; M. Aza-Carmona; E. Barroso; D. Heine-Suner; Dimitar Azmanov; J. Rosell; B. Ezquieta; L. Sentchordi Montané; T. Vendrell; J. Cruz; F. Santos; J. Ignacio Rodriguez; J. Pozo; J. Argente; Luba Kalaydjieva; R. Gracia; Á. Campos-Barros; S. Benito-Sanz; K.E. Heath

doi:10.1038/ejhg.2011.128

Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia

V. Barca-Tierno, M. Aza-Carmona, E. Barroso, D. Heine-Suner, Dimitar Azmanov, J. Rosell, B. Ezquieta, L. Sentchordi Montané, T. Vendrell, J. Cruz, F. Santos, J. Ignacio Rodriguez, J. Pozo, J. Argente, Luba Kalaydjieva, R. Gracia, Á. Campos-Barros, S. Benito-Sanz, K.E. Heath

UWA Centre for Medical Research (affiliated with the Harry Perkins Institute of Medical Research)

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

11 Citations (Scopus)

Original language	English
Pages (from-to)	1218-1225
Journal	European Journal of Human Genetics
Volume	19
DOIs	https://doi.org/10.1038/ejhg.2011.128
Publication status	Published - 2011

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10.1038/ejhg.2011.128

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Barca-Tierno, V., Aza-Carmona, M., Barroso, E., Heine-Suner, D., Azmanov, D., Rosell, J., Ezquieta, B., Sentchordi Montané, L., Vendrell, T., Cruz, J., Santos, F., Ignacio Rodriguez, J., Pozo, J., Argente, J., Kalaydjieva, L., Gracia, R., Campos-Barros, Á., Benito-Sanz, S., & Heath, K. E. (2011). Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia. European Journal of Human Genetics, 19, 1218-1225. https://doi.org/10.1038/ejhg.2011.128

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title = "Identification of a Gypsy SHOX mutation (p.A170P) in L{\'e}ri-Weill dyschondrosteosis and Langer mesomelic dysplasia",

author = "V. Barca-Tierno and M. Aza-Carmona and E. Barroso and D. Heine-Suner and Dimitar Azmanov and J. Rosell and B. Ezquieta and {Sentchordi Montan{\'e}}, L. and T. Vendrell and J. Cruz and F. Santos and {Ignacio Rodriguez}, J. and J. Pozo and J. Argente and Luba Kalaydjieva and R. Gracia and {\'A}. Campos-Barros and S. Benito-Sanz and K.E. Heath",

year = "2011",

doi = "10.1038/ejhg.2011.128",

language = "English",

volume = "19",

pages = "1218--1225",

journal = "European Journal of Human Genetics",

issn = "1018-4813",

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Barca-Tierno, V, Aza-Carmona, M, Barroso, E, Heine-Suner, D, Azmanov, D, Rosell, J, Ezquieta, B, Sentchordi Montané, L, Vendrell, T, Cruz, J, Santos, F, Ignacio Rodriguez, J, Pozo, J, Argente, J, Kalaydjieva, L, Gracia, R, Campos-Barros, Á, Benito-Sanz, S & Heath, KE 2011, 'Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia', European Journal of Human Genetics, vol. 19, pp. 1218-1225. https://doi.org/10.1038/ejhg.2011.128

TY - JOUR

T1 - Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia

AU - Barca-Tierno, V.

AU - Aza-Carmona, M.

AU - Barroso, E.

AU - Heine-Suner, D.

AU - Azmanov, Dimitar

AU - Rosell, J.

AU - Ezquieta, B.

AU - Sentchordi Montané, L.

AU - Vendrell, T.

AU - Cruz, J.

AU - Santos, F.

AU - Ignacio Rodriguez, J.

AU - Pozo, J.

AU - Argente, J.

AU - Kalaydjieva, Luba

AU - Gracia, R.

AU - Campos-Barros, Á.

AU - Benito-Sanz, S.

AU - Heath, K.E.

PY - 2011

Y1 - 2011

U2 - 10.1038/ejhg.2011.128

DO - 10.1038/ejhg.2011.128

M3 - Article

SN - 1018-4813

VL - 19

SP - 1218

EP - 1225

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

ER -