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

We report the clinical and molecular characteristics of 12 Spanish families with multiple members affected with Léri-Weill dyschondrosteosis (LWD) or Langer mesomelic dysplasia (LMD), who present the SHOX (short stature homeobox gene) mutation p.A170P (c.508G>C) in heterozygosity or homozygosity,...

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Main Authors: Barca-Tierno, Verónica, Aza-Carmona, Miriam, Barroso, Eva, Heine-Suner, Damia, Azmanov, Dimitar, Rosell, Jordi, Ezquieta, Begoña, Montané, Lucia Sentchordi, Vendrell, Teresa, Cruz, Jaime, Santos, Fernando, Rodríguez, José Ignacio, Pozo, Jesús, Argente, Jesús, Kalaydjieva, Luba, Gracía, Ricardo, Campos-Barros, Ángel, Benito-Sanz, Sara, Heath, Karen E
Format: Artigo
Language:Inglês
Published: Nature Publishing Group 2011
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC3230364/
https://ncbi.nlm.nih.gov/pubmed/21712857
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2011.128
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