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Familial cleft tongue caused by a unique translation initiation codon variant in TP63
Variants in transcription factor p63 have been linked to several autosomal dominantly inherited malformation syndromes. These disorders show overlapping phenotypic characteristics with various combinations of the following features: ectodermal dysplasia, split-hand/foot malformation/syndactyly, lacr...
Autores principales: | Schmidt, Julia, Schreiber, Gudrun, Altmüller, Janine, Thiele, Holger, Nürnberg, Peter, Li, Yun, Kaulfuß, Silke, Funke, Rudolf, Wilken, Bernd, Yigit, Gökhan, Wollnik, Bernd |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer International Publishing
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8821562/ https://www.ncbi.nlm.nih.gov/pubmed/34629465 http://dx.doi.org/10.1038/s41431-021-00967-x |
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