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Paternal uniparental disomy of chromosome 2 resulting in a concurrent presentation of Crigler-Najjar syndrome type I and long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
Knapp, Anna; Jagla, Mateusz; Madetko-Talowska, Anna; Szewczyk, Katarzyna; Ksiazek, Teofila; Konska, Katarzyna; Kwinta, Przemko.
Affiliation
  • Knapp A; Department of Pediatrics, Chair of Pediatrics Jagiellonian University Medical College, Krakow, Poland.
  • Jagla M; Department of Pediatrics, Chair of Pediatrics Jagiellonian University Medical College, Krakow, Poland.
  • Madetko-Talowska A; University Children Hospital in Krakow, Krakow, Poland.
  • Szewczyk K; Department of Medical Genetics, Chair of Pediatrics Jagiellonian University Medical College, Krakow, Poland.
  • Ksiazek T; University Children Hospital in Krakow, Krakow, Poland.
  • Konska K; Department of Medical Genetics, Chair of Pediatrics Jagiellonian University Medical College, Krakow, Poland.
  • Kwinta P; University Children Hospital in Krakow, Krakow, Poland.
Am J Med Genet A ; 188(6): 1848-1852, 2022 06.
Article in En | MEDLINE | ID: mdl-35199468
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Crigler-Najjar Syndrome Type of study: Prognostic_studies Limits: Humans / Infant / Male / Newborn Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2022 Document type: Article Affiliation country: Country of publication:
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Crigler-Najjar Syndrome Type of study: Prognostic_studies Limits: Humans / Infant / Male / Newborn Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2022 Document type: Article Affiliation country: Country of publication: