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Neonatal interstitial lung disease in a girl with Jacobsen syndrome: a case report

BACKGROUND: We report a case of the neonatal interstitial lung disease pulmonary interstitial glycogenosis in a girl with Jacobsen syndrome. While Jacobsen syndrome is caused by a deletion on the long arm of chromosome 11 and is genetically confirmed, pulmonary interstitial glycogenosis is of unknow...

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Detalles Bibliográficos
Autores principales: Dalen, Marit Lunde, Vigerust, Natalya Filipchuk, Hammarström, Clara, Holmstrøm, Henrik, Andresen, Jannicke Hanne
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8944088/
https://www.ncbi.nlm.nih.gov/pubmed/35321730
http://dx.doi.org/10.1186/s13256-022-03351-5