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

René Feichtinger; Martin Preisel; Katja Steinbrücker; Karin Brugger; Alexandra Radda; Saskia Wortmann; Johannes A. Mayr

doi:10.3390/genes13122191

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

René Feichtinger (First author), Martin Preisel, Katja Steinbrücker (Co-author), Karin Brugger, Alexandra Radda, Saskia Wortmann^* (Last author), Johannes A. Mayr (Last author)

^*Corresponding author for this work

Department of Pediatrics

Research output: Contribution to journal › Case report › peer-review

2 Citations (Web of Science)

Original language	English
Journal	GENES
Volume	13
Issue number	12
DOIs	https://doi.org/10.3390/genes13122191
Publication status	Published - 2022

Keywords

GENES

Access to Document

10.3390/genes13122191

Cite this

@article{adbce9ce65224b04930d1d318ef46597,

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

keywords = "GENES",

author = "Ren{\'e} Feichtinger and Martin Preisel and Katja Steinbr{\"u}cker and Karin Brugger and Alexandra Radda and Saskia Wortmann and Mayr, {Johannes A.}",

note = "Feichtinger, Mayr, Steinbr{\"u}cker, Wortmann: Department of Pediatrics, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), 5020 Salzburg, Austria ",

year = "2022",

doi = "10.3390/genes13122191",

language = "English",

volume = "13",

journal = "GENES",

issn = "2073-4425",

publisher = "MDPI",

number = "12",

}

TY - JOUR

T1 - A TSHZ3 Frame-Shift Variant Causes Neurodevelopmental and Renal Disorder Consistent with Previously Described Proximal Chromosome 19q13.11 Deletion Syndrome.

AU - Feichtinger, René

AU - Preisel, Martin

AU - Steinbrücker, Katja

AU - Brugger, Karin

AU - Radda, Alexandra

AU - Wortmann, Saskia

AU - Mayr, Johannes A.

N1 - Feichtinger, Mayr, Steinbrücker, Wortmann: Department of Pediatrics, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), 5020 Salzburg, Austria

PY - 2022

Y1 - 2022

KW - GENES

U2 - 10.3390/genes13122191

DO - 10.3390/genes13122191

M3 - Case report

C2 - 36553458

SN - 2073-4425

VL - 13

JO - GENES

JF - GENES

IS - 12

ER -