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Renal‐hepatic‐pancreatic dysplasia type 2: Perinatal lethal condition or a multisystemic disorder with variable expressivity

BACKGROUND: Renal‐hepatic‐pancreatic dysplasia type 2 (RHPD2) is a rare condition that has been described in the literature disproportionately in perinatal losses. The main features of liver and kidney involvement are well described, with cardiac malformations and cardiomyopathy adding additional va...

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Detalles Bibliográficos
Autores principales: Gunther, Kathryn, Imseis, Essam M., Samuel, Joyce P., Hillman, Elizabeth A., Ojala, Tiina H., Jahnukainen, Timo, Hillman, Paul R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10094071/
https://www.ncbi.nlm.nih.gov/pubmed/36756677
http://dx.doi.org/10.1002/mgg3.2135