A new nonsense mutation of PTCH1 gene in mother and daughter with late-onset nevus basal cell carcinoma syndrome: Case report

We detected a new mutation in PTCH1 gene in 2 patients with NBCCS, and both of them had ovarian mature teratomas, which are related to NM000264: exon14: c.2080C>T: p.Q694X.

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Publication Details

Journal
Medicine
Published
2024-11-29
DOI
https://doi.org/10.1097/md.0000000000040471
Citations
1
Primary Topic
Hedgehog Signaling Pathway Studies
Type
article
Field-Weighted Citation Impact
0.23

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article

A new nonsense mutation of PTCH1 gene in mother and daughter with late-onset nevus basal cell carcinoma syndrome: Case report

Jianwen Han, Liya Ai, Xin Li, Ya-Qi Cao et al.
1 citations
Medicine
Hedgehog Signaling Pathway Studies
0.23
article

A new nonsense mutation of PTCH1 gene in mother and daughter with late-onset nevus basal cell carcinoma syndrome: Case report

Jianwen Han, Liya Ai, Xin Li, Ya-Qi Cao, Chunyu Han
article en
1 citations

Abstract

We detected a new mutation in PTCH1 gene in 2 patients with NBCCS, and both of them had ovarian mature teratomas, which are related to NM000264: exon14: c.2080C>T: p.Q694X.

MedicineVol. 103(48)
Inner Mongolia Medical University (CN)
Inner Mongolia Medical University
Good health and well-being
Openalex Percentile: Top 41%
Hedgehog Signaling Pathway Studies
0.23
DOIOpen Access PDFOpenAlex
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