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PORCN-related microphthalmia with limb anomalies: Case report and literature review.
Fukahori, Kyoko; Yamoto, Kaori; Saitsu, Hirotomo; Ogata, Tsutomu; Nagasaki, Keisuke.
Affiliation
  • Fukahori K; Department of Pediatrics, Niigata University Medical & Dental Hospital, Niigata, Japan.
  • Yamoto K; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.
  • Saitsu H; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.
  • Ogata T; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.
  • Nagasaki K; Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan.
Am J Med Genet A ; 191(2): 636-639, 2023 02.
Article in En | MEDLINE | ID: mdl-36401583
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Waardenburg Syndrome / Microphthalmos Limits: Humans Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2023 Document type: Article Affiliation country: Country of publication:
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Waardenburg Syndrome / Microphthalmos Limits: Humans Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2023 Document type: Article Affiliation country: Country of publication: