본문 바로가기
KERD
논문KCI 등재

Co-Occurrence of Autosomal Recessive Lamellar Ichthyosis and X-Linked Recessive Ichthyosis in a Consanguineous Pakistani Family

2

조회

0

다운로드

0

인용

0

참고문헌

주제분류피부과학

참고문헌 (10)

  1. Vahlquist A, "Inherited nonsyndromic ichthyoses : an update on pathophysiology, diagnosis and treatment", Am J Clin Dermatol, 19, pp.51~66 (2018)
  2. Rajpopat S, "Harlequin ichthyosis : a review of clinical and molecular findings in 45 cases", Arch Dermatol, 147, pp.681~686 (2011)
  3. Bittles AH, "Evolution in health and medicine Sackler colloquium: consanguinity, human evolution, and complex diseases", Proc Natl Acad Sci U S A, (107 Suppl 1), pp.1779~1786 (2010)
  4. Richard G, "GeneReviewsⓇ" (2001), University of Washington
  5. Rasheed M, "Novel TGM1mutation in a Pakistani family affected with severe lamellar ichthyosis", Pediatr Neonatol, 59, pp.628~629 (2018)
  6. Nakagawa N, "Knocking-in the R142C mutation in transglutaminase 1 disrupts the stratum corneum barrier and postnatal survival of mice", J Dermatol Sci, 65, pp.196~206 (2012)
  7. Crane JS, "Stat-Pearls" (2019), StatPearls Publishing
  8. Ghosh D, "Three-dimensional structures of sulfatases", Methods Enzymol, 400, pp.273~293 (2005)
  9. Rice RH, "Distinguishing ichthyoses by protein profiling", PLoS One, 8, pp.e75355~ (2013)
  10. Lal D, "Increased probability of co-occurrence of two rare diseases in consanguineous families and resolution of a complex phenotype by next generation sequencing", PLoS One, 11, pp.e0146040~ (2016)

관련 논문AI추천

Pachyonychia Congenita with a Novel Variant in the K RT16 Gene, c.348_379delinsAA고정민, 문제호, 허근영대한피부과학회 · Annals of Dermatology2022 · 제34권 제6호Novel Compound Heterozygous Mutations of TGM1 Gene Identified in a Turkish Collodion Baby Diagnosed with Non-Bullous Congenital Ichthyosiform ErythrodermaCanan Türkyilmaz, Ebru Ergenekon, Elif Keleş Gülnerman, Eray Esra Önal, Esin Koç, Esra Adişen, Gülsüm Kayhan, İbrahim Murat Hirfanoğlu, Merve Akillioglu, Nurcan Hanedan, Özlem Erdem대한피부과학회 · Annals of Dermatology2023 · 제35권 제1호Identification of a Novel Mutation of LAMB3 Gene in a Lybian Patient with Hereditary Epidermolysis Bullosa by Whole Exome SequencingAbdelaziz Elahlafi, Anu Bashamboo, Chaima Ben Fayala, Houda Yacoub Youssef, Kenneth McElreavey, Mariem Chargui, Mohamed Samir Boubaker, Mourad Mokni, Nadia Laroussi, Olfa Messaoud, Sonia Abdelhak대한피부과학회 · Annals of Dermatology2017 · 제29권 제2호One Mutation of the ED1 Gene in a Chinese Han Family with X-Linked Hypohidrotic Ectodermal DysplasiaHua-Yang Tang, Jing Wang, Jun Zhu, Sen Yang, Wei-Wei Ha, Xian-Fa Tang, Xian-Yong Yin, Xue-Jun Zhang대한피부과학회 · Annals of Dermatology2014 · 제26권 제1호A Novel Mutation in the MBTPS2 Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome고현창, 김문범, 김병수, 김우일, 김훈수, 노동영, 신기혁, 신준오, 양민영, 이원구대한피부과학회 · Annals of Dermatology2022 · 제34권 제1호Hereditary Papulotranslucent Acrokeratoderma: Prominent Clinical Presentation after Water Exposure김범준, 김지희, 오상호대한피부과학회 · Annals of Dermatology2019 · 제31권 제1호

이 간행물의 다른 논문 (17건)