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...

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Detalles Bibliográficos
Autores principales: Schmidt, Julia, Schreiber, Gudrun, Altmüller, Janine, Thiele, Holger, Nürnberg, Peter, Li, Yun, Kaulfuß, Silke, Funke, Rudolf, Wilken, Bernd, Yigit, Gökhan, Wollnik, Bernd
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2021
Materias:
Article
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

Internet

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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