A TSHZ3 Frame-Shift Variant Causes Neurodevelopmental and Renal Disorder Consistent with Previously Described Proximal Chromosome 19q13.11 Deletion Syndrome

Heterozygous deletions at 19q12–q13.11 affecting TSHZ3, the teashirt zinc finger homeobox 3, have been associated with intellectual disability and behavioural issues, congenital anomalies of the kidney and urinary tract (CAKUT), and postnatal growth retardation in humans and mice. TSHZ3 encodes a tr...

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Detalles Bibliográficos
Autores principales: Feichtinger, René G., Preisel, Martin, Steinbrücker, Katja, Brugger, Karin, Radda, Alexandra, Wortmann, Saskia B., Mayr, Johannes A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9778592/
https://www.ncbi.nlm.nih.gov/pubmed/36553458
http://dx.doi.org/10.3390/genes13122191

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9778592/
https://www.ncbi.nlm.nih.gov/pubmed/36553458
http://dx.doi.org/10.3390/genes13122191

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