In-depth investigations of adolescents and adults with holoprosencephaly identify unique characteristics

PURPOSE: With improved medical care, some individuals with holoprosencephaly (HPE) are surviving into adulthood. We investigated the clinical manifestations of adolescents and adults with HPE and explored the underlying molecular causes. METHODS: Participants included 20 subjects 15 years of age and...

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Detalles Bibliográficos
Autores principales: Weiss, Karin, Kruszka, Paul, Guillen Sacoto, Maria J, Addissie, Yonit A, Hadley, Donald W, Hadsall, Casey K, Stokes, Bethany, Hu, Ping, Roessler, Erich, Solomon, Beth, Wiggs, Edythe, Thurm, Audrey, Hufnagel, Robert B, Zein, Wadih M, Hahn, Jin S, Stashinko, Elaine, Levey, Eric, Baldwin, Debbie, Clegg, Nancy J, Delgado, Mauricio R, Muenke, Maximilian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2018
Materias:
Original Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5763157/
https://www.ncbi.nlm.nih.gov/pubmed/28640243
http://dx.doi.org/10.1038/gim.2017.68

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