PRDM1 DNA-binding zinc finger domain is required for normal limb development and is disrupted in split hand/foot malformation

Split hand/foot malformation (SHFM) is a rare limb abnormality with clefting of the fingers and/or toes. For many individuals, the genetic etiology is unknown. Through whole-exome and targeted sequencing, we detected three novel variants in a gene encoding a transcription factor, PRDM1, that arose d...

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Detalles Bibliográficos
Autores principales: Truong, Brittany T., Shull, Lomeli C., Lencer, Ezra, Bend, Eric G., Field, Michael, Blue, Elizabeth E., Bamshad, Michael J., Skinner, Cindy, Everman, David, Schwartz, Charles E., Flanagan-Steet, Heather, Artinger, Kristin B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Company of Biologists Ltd 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10151829/
https://www.ncbi.nlm.nih.gov/pubmed/37083955
http://dx.doi.org/10.1242/dmm.049977

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