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

Research output: Contribution to journalArticle

8 Citations (Scopus)
Original languageEnglish
Pages (from-to)1218-1225
JournalEuropean Journal of Human Genetics
Volume19
DOIs
Publication statusPublished - 2011

Cite this

Barca-Tierno, V. ; Aza-Carmona, M. ; Barroso, E. ; Heine-Suner, D. ; Azmanov, Dimitar ; Rosell, J. ; Ezquieta, B. ; Sentchordi Montané, L. ; Vendrell, T. ; Cruz, J. ; Santos, F. ; Ignacio Rodriguez, J. ; Pozo, J. ; Argente, J. ; Kalaydjieva, Luba ; Gracia, R. ; Campos-Barros, Á. ; Benito-Sanz, S. ; Heath, K.E. / Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia. In: European Journal of Human Genetics. 2011 ; Vol. 19. pp. 1218-1225.
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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",
publisher = "Nature Publishing Group - Macmillan Publishers",

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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

Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia. / Barca-Tierno, V.; Aza-Carmona, M.; Barroso, E.; Heine-Suner, D.; Azmanov, Dimitar; Rosell, J.; Ezquieta, B.; Sentchordi Montané, L.; Vendrell, T.; Cruz, J.; Santos, F.; Ignacio Rodriguez, J.; Pozo, J.; Argente, J.; Kalaydjieva, Luba; Gracia, R.; Campos-Barros, Á.; Benito-Sanz, S.; Heath, K.E.

In: European Journal of Human Genetics, Vol. 19, 2011, p. 1218-1225.

Research output: Contribution to journalArticle

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

VL - 19

SP - 1218

EP - 1225

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

SN - 1018-4813

ER -