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New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report.
Blanco-Kelly, Fiona; Rodrigues-Jacy da Silva, Luciana; Sanchez-Navarro, Iker; Riveiro-Alvarez, Rosa; Lopez-Martinez, Miguel Angel; Corton, Marta; Ayuso, Carmen.
Affiliation
  • Blanco-Kelly F; Department of Medical Genetics, Instituto de Investigación Sanitaria - Fundación Jiménez Díaz, (IIS-FJD, UAM), Madrid, Spain.
  • Rodrigues-Jacy da Silva L; Centro de Investigaciones Biomédicas en Red de Enfermedades Raras (CIBERER), Instituto Carlos IIII (ISCIII), Madrid, Spain.
  • Sanchez-Navarro I; Department of Medical Genetics, Instituto de Investigación Sanitaria - Fundación Jiménez Díaz, (IIS-FJD, UAM), Madrid, Spain.
  • Riveiro-Alvarez R; Department of Medical Genetics, Instituto de Investigación Sanitaria - Fundación Jiménez Díaz, (IIS-FJD, UAM), Madrid, Spain.
  • Lopez-Martinez MA; Department of Medical Genetics, Instituto de Investigación Sanitaria - Fundación Jiménez Díaz, (IIS-FJD, UAM), Madrid, Spain.
  • Corton M; Centro de Investigaciones Biomédicas en Red de Enfermedades Raras (CIBERER), Instituto Carlos IIII (ISCIII), Madrid, Spain.
  • Ayuso C; Department of Medical Genetics, Instituto de Investigación Sanitaria - Fundación Jiménez Díaz, (IIS-FJD, UAM), Madrid, Spain.
BMC Med Genet ; 18(1): 1, 2017 Jan 07.
Article in En | MEDLINE | ID: mdl-28061825
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cadherins / Hypotrichosis / Macular Degeneration Limits: Adult / Humans / Male Language: En Journal: BMC Med Genet Journal subject: GENETICA MEDICA Year: 2017 Document type: Article Affiliation country: Spain Country of publication: United kingdom
Fulltext
Add to My VHL
Print
XML
PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cadherins / Hypotrichosis / Macular Degeneration Limits: Adult / Humans / Male Language: En Journal: BMC Med Genet Journal subject: GENETICA MEDICA Year: 2017 Document type: Article Affiliation country: Spain Country of publication: United kingdom