Expanding the clinical phenotype of FGFR1 internal tandem duplication

Closed spinal dysraphism (SD) is a type of neural tube defect originating during early embryonic development whereby the neural tissue of the spinal defect remains covered by skin, often coinciding with markers of cutaneous stigmata. It is hypothesized that these events are caused by multifactorial...

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Detalles Bibliográficos
Autores principales: Kautto, Esko A., Schieffer, Kathleen M., McGrath, Sean, Miller, Anthony R., Hernandez-Gonzalez, Maria Elena, Choi, Samantha, Conces, Miriam R., Fernandez-Faith, Esteban, Ho, Mai-Lan, Lee, Kristy, Lillis, Anna P., Pearson, Gregory D., Kaler, Stephen G., Wilson, Richard K., Mardis, Elaine R., Magrini, Vincent, Leonard, Jeffrey, Cottrell, Catherine E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2022
Materias:
Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8958921/
https://www.ncbi.nlm.nih.gov/pubmed/35149534
http://dx.doi.org/10.1101/mcs.a006174

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