Ann Dermatol.  2019 Aug;31(Suppl):S10-S11. 10.5021/ad.2019.31.S.S10.

Novel PTCH1 Gene Mutation in a Patient with Gorlin–Goltz Syndrome

• Ozlu E
• Karadag AS
• Akalın I
• Yesil G
• Yılmaz S
• Zindancı
• Uzuncakmak TK
• Ozkanlı S
• Akdeniz N

• KMID: 2456661
• DOI: http://doi.org/10.5021/ad.2019.31.S.S10

Abstract

No abstract available.

MeSH Terms

Humans

Figure

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  Fig. 1 (A) Dysmorphic face and mild mandibular prognathism. (B) Brown papules in axillary region. (C) Scapular deformity. (D) Ulceration of surface epithelium and basal cells represented peripheral palisades (H&E, ×10).

Reference

1. Škodrić-Trifunović V, Stjepanović M, Savić Ž, Ilić M, Kavečan I, Jovanović Privrodski J, et al. Novel patched 1 mutations in patients with nevoid basal cell carcinoma syndrome--case report. Croat Med J. 2015; 56:63–67.

2. PolyPhen-2 (Polymorphism Phenotyping v2) [Internet]. Boston: 2010. 04. 01. updated 2016 Jan 5. cited 2018 May 1. Available from: http://genetics.bwh.harvard.edu/pph2/.

3. ExAC Browser beta. Gene: PTCH1 [Internet]. cited 2018 Feb 4. Available from: http://exac.broadinstitute.org/gene/ENSG00000185920.

4. The Exome Aggregation Consortium (ExAC). Gene: PTCH1 [Internet]. Boston: The Exome Aggregation Consortium (ExAC);2014. 10. 15. updated 2017 Feb 27. cited 2018 Apr 15. Available from: http://exac.broadinstitute.org/gene/ENSG00000185920.

5. Pino LC, Balassiano LK, Sessim M, de Almeida AP, Empinotti VD, Semenovitch I, et al. Basal cell nevus syndrome: clinical and molecular review and case report. Int J Dermatol. 2016; 55:367–375.