PCSK5 mutation in a patient with the VACTERL association

BACKGROUND: The VACTERL association is a typically sporadic, non-random collection of congenital anomalies that includes vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula with esophageal atresia, renal anomalies, and limb abnormalities. Although several chromosomal aberrati...

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Detalles Bibliográficos
Autores principales: Nakamura, Yukio, Kikugawa, Shingo, Seki, Shoji, Takahata, Masahiko, Iwasaki, Norimasa, Terai, Hidetomi, Matsubara, Mitsuhiro, Fujioka, Fumio, Inagaki, Hidehito, Kobayashi, Tatsuya, Kimura, Tomoatsu, Kurahashi, Hiroki, Kato, Hiroyuki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4467638/
https://www.ncbi.nlm.nih.gov/pubmed/26055999
http://dx.doi.org/10.1186/s13104-015-1166-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4467638/
https://www.ncbi.nlm.nih.gov/pubmed/26055999
http://dx.doi.org/10.1186/s13104-015-1166-0

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