Forskning ved Københavns Universitet - Københavns Universitet

Forside

A healthy individual with a homozygous PTCH2 frameshift variant: Are variants of PTCH2 associated with nevoid basal cell carcinoma syndrome?

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningfagfællebedømt

Standard

A healthy individual with a homozygous PTCH2 frameshift variant : Are variants of PTCH2 associated with nevoid basal cell carcinoma syndrome? / Altaraihi, M.; Wadt, K.; Ek, J.; Gerdes, A. M.; Ostergaard, E.

I: Human Genome Variation, Bind 6, Nr. 1, 10, 2019.

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningfagfællebedømt

Harvard

Altaraihi, M, Wadt, K, Ek, J, Gerdes, AM & Ostergaard, E 2019, 'A healthy individual with a homozygous PTCH2 frameshift variant: Are variants of PTCH2 associated with nevoid basal cell carcinoma syndrome?', Human Genome Variation, bind 6, nr. 1, 10. https://doi.org/10.1038/s41439-019-0041-2

APA

Altaraihi, M., Wadt, K., Ek, J., Gerdes, A. M., & Ostergaard, E. (2019). A healthy individual with a homozygous PTCH2 frameshift variant: Are variants of PTCH2 associated with nevoid basal cell carcinoma syndrome? Human Genome Variation, 6(1), [10]. https://doi.org/10.1038/s41439-019-0041-2

Vancouver

Altaraihi M, Wadt K, Ek J, Gerdes AM, Ostergaard E. A healthy individual with a homozygous PTCH2 frameshift variant: Are variants of PTCH2 associated with nevoid basal cell carcinoma syndrome? Human Genome Variation. 2019;6(1). 10. https://doi.org/10.1038/s41439-019-0041-2

Author

Altaraihi, M. ; Wadt, K. ; Ek, J. ; Gerdes, A. M. ; Ostergaard, E. / A healthy individual with a homozygous PTCH2 frameshift variant : Are variants of PTCH2 associated with nevoid basal cell carcinoma syndrome?. I: Human Genome Variation. 2019 ; Bind 6, Nr. 1.

Bibtex

@article{1da470037dc448be93720e6a1fee99e2,
title = "A healthy individual with a homozygous PTCH2 frameshift variant: Are variants of PTCH2 associated with nevoid basal cell carcinoma syndrome?",
abstract = "Variants in PTCH2 have been described to be associated with Nevoid Basal Cell Carcinoma Syndrome (NBCCS). We report a family with a healthy female who is homozygous for a frameshift variant, c.269delG, p.(Gly90Alafs*4), in PTCH2 and her heterozygous daughter. The variant predicts a frameshift and a premature stop codon. A summary of reported heterozygous individuals with germline PTCH2 variants along with the existence of a healthy homozygous individual question whether variants in PTCH2 are associated with NBCCS.",
author = "M. Altaraihi and K. Wadt and J. Ek and Gerdes, {A. M.} and E. Ostergaard",
year = "2019",
doi = "10.1038/s41439-019-0041-2",
language = "English",
volume = "6",
journal = "Human Genome Variation",
issn = "2054-345X",
publisher = "Nature Publishing Group",
number = "1",

}

RIS

TY - JOUR

T1 - A healthy individual with a homozygous PTCH2 frameshift variant

T2 - Are variants of PTCH2 associated with nevoid basal cell carcinoma syndrome?

AU - Altaraihi, M.

AU - Wadt, K.

AU - Ek, J.

AU - Gerdes, A. M.

AU - Ostergaard, E.

PY - 2019

Y1 - 2019

N2 - Variants in PTCH2 have been described to be associated with Nevoid Basal Cell Carcinoma Syndrome (NBCCS). We report a family with a healthy female who is homozygous for a frameshift variant, c.269delG, p.(Gly90Alafs*4), in PTCH2 and her heterozygous daughter. The variant predicts a frameshift and a premature stop codon. A summary of reported heterozygous individuals with germline PTCH2 variants along with the existence of a healthy homozygous individual question whether variants in PTCH2 are associated with NBCCS.

AB - Variants in PTCH2 have been described to be associated with Nevoid Basal Cell Carcinoma Syndrome (NBCCS). We report a family with a healthy female who is homozygous for a frameshift variant, c.269delG, p.(Gly90Alafs*4), in PTCH2 and her heterozygous daughter. The variant predicts a frameshift and a premature stop codon. A summary of reported heterozygous individuals with germline PTCH2 variants along with the existence of a healthy homozygous individual question whether variants in PTCH2 are associated with NBCCS.

U2 - 10.1038/s41439-019-0041-2

DO - 10.1038/s41439-019-0041-2

M3 - Journal article

C2 - 30820324

AN - SCOPUS:85069297013

VL - 6

JO - Human Genome Variation

JF - Human Genome Variation

SN - 2054-345X

IS - 1

M1 - 10

ER -

ID: 240631730