Chromosomal Microarray Analysis Identifies a Novel SALL1 Deletion, Supporting the Association of Haploinsufficiency with a Mild Phenotype of Townes–Brocks Syndrome

SALL1 heterozygous pathogenic variants cause Townes–Brocks syndrome (TBS), a condition with variable clinical presentation. The main features are a stenotic or imperforate anus, dysplastic ears, and thumb malformations, and other common concerns are hearing impairments, foot malformations, and renal...

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Detalles Bibliográficos
Autores principales: Innoceta, Anna Maria, Olivucci, Giulia, Parmeggiani, Giulia, Scarano, Emanuela, Pragliola, Antonella, Graziano, Claudio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9956891/
https://www.ncbi.nlm.nih.gov/pubmed/36833185
http://dx.doi.org/10.3390/genes14020258

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9956891/
https://www.ncbi.nlm.nih.gov/pubmed/36833185
http://dx.doi.org/10.3390/genes14020258

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