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

Emin Ozlu|Ayse Serap Karadag|Ibrahim Akalın|Gozde Yesil|Sarenur Yılmaz|Ilkin Zindancı|Tugba Kevser Uzuncakmak|Seyma Ozkanlı|Necmettin Akdeniz
대한피부과학회 (Korean Dermalogical Association)|2019.02|Annals of Dermatology|제31권 제1호|pp. 10-11|DOI https://doi.org/10.5021/ad.2019.31.S.S10

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주제분류피부과학

참고문헌 (5)

  1. Škodrić-Trifunović V, "Novel patched 1 mutations in patients with nevoid basal cell carcinoma syndrome--case report", Croat Med J, 56, pp.63~67 (2015)
  2. "PolyPhen-2 (Polymorphism Phenotyping v2)" (2010)[URL]
  3. "ExAC Browser beta. Gene: PTCH1"[URL]
  4. "Gene: PTCH1" (2014)[URL]
  5. Pino LC, "Basal cell nevus syndrome : clinical and molecular review and case report", Int J Dermatol, 55, pp.367~375 (2016)

관련 논문AI추천

Novel Patched 1 Mutations in Patients with Gorlin-Goltz Syndrome Strategic Treated by Smoothened InhibitorChien-yio Lin, Chih-Hsun Yang, Chuang-Wei Wang, Shih-Wen Hsu, Wen-Hung Chung, Yao-Yu Chang대한피부과학회 · Annals of Dermatology2018 · 제30권 제5호The First Korean Case of Gorlin–Goltz Syndrome Caused by a PTCH2 Pathogenic Variant Identified via Whole Exome Sequencing권원경, 김종원, 김형태, 우혜인, 윤영철대한진단검사의학회 · Laboratory Medicine Online2020 · 제10권 제2호Unusual Neurological Presentation of Nevoid Basal Cell Carcinoma Syndrome (Gorlin-Goltz Syndrome)Carmelo Schepis, Giuseppe Lanza, Manuela Pennisi, Mariagiovanna Cantone, Raffaele Ferri, Rita Barone, Rita Bella대한신경과학회 · Journal of Clinical Neurology2017 · 제13권 제4호A novel neurofibromatosis type 1 (NF1) mutation in a patient with NF1 and pheochromocytomaDong Yoon Kim, Eun Sook Kim, Je Ho Han, Kyueun Choi, Sung Dae Moon, Yeonjeong Jeong, Yoorim Seo대한내과학회 · The Korean Journal of Internal Medicine2018 · 제33권 제1호A Case of Hyaline Fibromatosis Syndrome with a New Variant of Genetic Mutation in ANTXR2 Gene박지혜, 박찬성, 변현정, 양준모, 유소영, 이동윤, 이종은, 이종희, 이주흥, 이지훈, 임영경대한피부과학회 · Annals of Dermatology2019 · 제31권 제1호Identification of Somatic KRAS Mutation in a Korean Baby with Nevus Sebaceus Syndrome강미선, 기창석, 김성우, 전가원, Jong Beom Sin, Ju Sun Song대한진단검사의학회 · Annals of Laboratory Medicine2015 · 제35권 제1호

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