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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

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