Response To: Overlapping Phenotype from Double Trouble SMARCA2 and POLG1 Variants c.2556A > C and c.3708G > T, Respectively

Celina von Stülpnagel; Benedikt Hofmeister; Steffen Berweck; Gerhard Kluger; Peter Weber

doi:10.1055/s-0040-1712486

Response To: Overlapping Phenotype from Double Trouble SMARCA2 and POLG1 Variants c.2556A > C and c.3708G > T, Respectively

Celina von Stülpnagel (First author), Benedikt Hofmeister, Steffen Berweck, Gerhard Kluger (Co-author), Peter Weber

Research output: Contribution to journal › Letter to the editor › peer-review

Original language	English
Pages (from-to)	375-376
Number of pages	2
Journal	NEUROPEDIATRICS
Volume	51
Issue number	5
DOIs	https://doi.org/10.1055/s-0040-1712486
Publication status	Published - Oct 2020

Keywords

Chemical and Drug Induced Liver Injury
Facies
Foot Deformities, Congenital
Humans
Hypotrichosis
Intellectual Disability
Mutation
Phenotype
Transcription Factors
Valproic Acid

Access to Document

10.1055/s-0040-1712486

Cite this

von Stülpnagel, C., Hofmeister, B., Berweck, S., Kluger, G., & Weber, P. (2020). Response To: Overlapping Phenotype from Double Trouble SMARCA2 and POLG1 Variants c.2556A > C and c.3708G > T, Respectively. NEUROPEDIATRICS , 51(5), 375-376. https://doi.org/10.1055/s-0040-1712486

von Stülpnagel, Celina ; Hofmeister, Benedikt ; Berweck, Steffen et al. / Response To : Overlapping Phenotype from Double Trouble SMARCA2 and POLG1 Variants c.2556A > C and c.3708G > T, Respectively. In: NEUROPEDIATRICS 2020 ; Vol. 51, No. 5. pp. 375-376.

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title = "Response To: Overlapping Phenotype from Double Trouble SMARCA2 and POLG1 Variants c.2556A > C and c.3708G > T, Respectively",

keywords = "Chemical and Drug Induced Liver Injury, Facies, Foot Deformities, Congenital, Humans, Hypotrichosis, Intellectual Disability, Mutation, Phenotype, Transcription Factors, Valproic Acid",

author = "{von St{\"u}lpnagel}, Celina and Benedikt Hofmeister and Steffen Berweck and Gerhard Kluger and Peter Weber",

note = "v. St{\"u}lpnagel; Kluger: Institute for Transition, Rehabilitation and Palliation, Paracelsus Private Medical University of Salzburg, Salzburg, Austria; 2 Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Comprehensive Epilepsy Program for Children, University Hospital Munich, LMU Munich, Germany ",

year = "2020",

month = oct,

doi = "10.1055/s-0040-1712486",

language = "English",

volume = "51",

pages = "375--376",

journal = "NEUROPEDIATRICS ",

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von Stülpnagel, C, Hofmeister, B, Berweck, S, Kluger, G & Weber, P 2020, 'Response To: Overlapping Phenotype from Double Trouble SMARCA2 and POLG1 Variants c.2556A > C and c.3708G > T, Respectively', NEUROPEDIATRICS , vol. 51, no. 5, pp. 375-376. https://doi.org/10.1055/s-0040-1712486

Response To: Overlapping Phenotype from Double Trouble SMARCA2 and POLG1 Variants c.2556A > C and c.3708G > T, Respectively. / von Stülpnagel, Celina (First author); Hofmeister, Benedikt; Berweck, Steffen et al.
In: NEUROPEDIATRICS , Vol. 51, No. 5, 10.2020, p. 375-376.

Research output: Contribution to journal › Letter to the editor › peer-review

TY - JOUR

T1 - Response To

T2 - Overlapping Phenotype from Double Trouble SMARCA2 and POLG1 Variants c.2556A > C and c.3708G > T, Respectively

AU - von Stülpnagel, Celina

AU - Hofmeister, Benedikt

AU - Berweck, Steffen

AU - Kluger, Gerhard

AU - Weber, Peter

N1 - v. Stülpnagel; Kluger: Institute for Transition, Rehabilitation and Palliation, Paracelsus Private Medical University of Salzburg, Salzburg, Austria; 2 Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Comprehensive Epilepsy Program for Children, University Hospital Munich, LMU Munich, Germany

PY - 2020/10

Y1 - 2020/10

KW - Chemical and Drug Induced Liver Injury

KW - Facies

KW - Foot Deformities, Congenital

KW - Humans

KW - Hypotrichosis

KW - Intellectual Disability

KW - Mutation

KW - Phenotype

KW - Transcription Factors

KW - Valproic Acid

U2 - 10.1055/s-0040-1712486

DO - 10.1055/s-0040-1712486

M3 - Letter to the editor

C2 - 32464671

SN - 0174-304X

VL - 51

SP - 375

EP - 376

JO - NEUROPEDIATRICS

JF - NEUROPEDIATRICS

IS - 5

ER -

von Stülpnagel C, Hofmeister B, Berweck S, Kluger G, Weber P. Response To: Overlapping Phenotype from Double Trouble SMARCA2 and POLG1 Variants c.2556A > C and c.3708G > T, Respectively. NEUROPEDIATRICS . 2020 Oct;51(5):375-376. doi: 10.1055/s-0040-1712486