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A170P mutation in SHOX gene in a patient not presenting with Madelung deformity

Authors

  • María Isabel Álvarez-Mora 1Biochemistry and Molecular Genetics Department, Hospital Clínic, IDIBAPS, Barcelona, Spain2CIBER de Enfermedades raras (CIBERER) Instituto Carlos III, SpainCIBER de Enfermedades raras (CIBERER) Instituto Carlos III, Spain PubMed articlesGoogle scholar articles
  • Irene Madrigal 1Biochemistry and Molecular Genetics Department, Hospital Clínic, IDIBAPS, Barcelona, Spain2CIBER de Enfermedades raras (CIBERER) Instituto Carlos III, SpainCIBER de Enfermedades raras (CIBERER) Instituto Carlos III, Spain PubMed articlesGoogle scholar articles
  • Laia Rodriguez-Revenga 1Biochemistry and Molecular Genetics Department, Hospital Clínic, IDIBAPS, Barcelona, Spain2CIBER de Enfermedades raras (CIBERER) Instituto Carlos III, SpainCIBER de Enfermedades raras (CIBERER) Instituto Carlos III, Spain PubMed articlesGoogle scholar articles
  • Antonio Mur 3Servicio de Pediatría, Hospital del Mar, Barcelona, Spain4Departamento de Pediatría y Obstectricia de la UAB PubMed articlesGoogle scholar articles
  • Dolors Calvo 5Residencia El Lluc, ACAM PubMed articlesGoogle scholar articles
  • Josep Pascual i Bardají 5Residencia El Lluc, ACAM PubMed articlesGoogle scholar articles
  • Montserrat Milà 1Biochemistry and Molecular Genetics Department, Hospital Clínic, IDIBAPS, Barcelona, Spain2CIBER de Enfermedades raras (CIBERER) Instituto Carlos III, SpainCIBER de Enfermedades raras (CIBERER) Instituto Carlos III, Spain PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Montserrat Milà, Recasens, Cap de Secció de Genètica Molecular, Servei de Bioquímica i Genètica Molecular, Hospital Clínic Barcelona, Villarroel 170, 08036 Barcelona, Spain; mmila{at}clinic.ub.es
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Citation

Álvarez-Mora MI, Madrigal I, Rodriguez-Revenga L, et al
A170P mutation in SHOX gene in a patient not presenting with Madelung deformity
Journal of Clinical Pathology 2012;65:844-846.

Publication history

  • Accepted March 6, 2012
  • First published March 29, 2012.
Online issue publication 
April 18, 2016

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© 2012, Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.