Article
Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia.
European journal of human genetics : EJHG - 1 Dec 2011
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 Angel, Benito-Sanz Sara, Heath Karen E
Abstract excerpt
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, respectively. In all studied families, the A170P mutation co-segregated with the fully penetrant phenotype of...
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