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Shuk Ching Chong, Kam Lun Hon, Liz Y. P. Yuen, Paul Cheung Lung Choi, W. G. Gigi Ng & Tor W. Chiu. (2021) Neonatal epidermolysis bullosa: lessons to learn about genetic counseling. Journal of Dermatological Treatment 32:1, pages 29-32.
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Kam Lun Ellis Hon, Joshua J. Li, Bernadette L. Cheng, David C. Luk, Dedee F. Murrell, Paul C. L. Choi & Alexander K. C. Leung. (2015) Age and etiology of childhood epidermolysis bullosa mortality. Journal of Dermatological Treatment 26:2, pages 178-182.
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Articles from other publishers (7)
Yao Wang, Dong Yu, Wei Wei, Hao Zheng, Ming-Hua Liu, Long Ma, Li-Na Qin, Neng-Zhuang Wang, Jia-Xi Li, Jin-Jiang Wang, Xin-Ling Bi & Hong-Li Yan. (2022) First case report of complete paternal isodisomy of chromosome 10 harbouring a novel variant in COL17A1 that causes junctional epidermolysis bullosa intermediate. BMC Medical Genomics 15:1.
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Alfred Klausegger, Niklas Jeschko, Markus Grammer, Jan Cemper-Kiesslich, Franz Neuhuber, Anja Diem, Hannelore Breitenbach-Koller, Gabriele Sander, Dieter Kotzot, Johann Wolfgang Bauer & Martin Laimer. (2022) Recessive Dystrophic Epidermolysis bullosa due to Hemizygous 40 kb Deletion of COL7A1 and the Proximate PFKFB4 Gene Focusing on the Mutation c.425A>G Mimicking Homozygous Status. Diagnostics 12:10, pages 2460.
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Kam Lun Hon, Samantha Chu & Alexander K.C. Leung. (2022) Epidermolysis Bullosa: Pediatric Perspectives. Current Pediatric Reviews 18:3, pages 182-190.
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Xiufen Bu, Xu Li, Shihao Zhou, Liangcheng Shi, Xuanyu Jiang, Can Peng, Hongyu Li & Jun He. (2021) Prenatal diagnosis of complete paternal uniparental isodisomy for chromosome 3: a case report. Molecular Cytogenetics 14:1.
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Shuk Ching Chong, Kam Lun Hon, Fernando Scaglia, Chung Mo Chow, Yu Ming Fu, Tor Wo Chiu & Alexander K. C. Leung. (2020)
Severe Generalized Epidermolysis Bullosa Simplex in Two Hong Kong Children due to
De Novo
Variants in
KRT14
and
KRT5
. Case Reports in Pediatrics 2020, pages 1-5.
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Osman Oztekin, Salih Kalay, Gonul Tezel, Erdem Basaran, Ibrahim Bassorgun, Mustafa Akcakus & Nihal Oygur. (2013) Phenytoin therapy in a neonate diagnosed with epidermolysis bullosa. International Journal of Dermatology 52:11, pages 1376-1379.
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Gyo Shin KangWoo Tae KoJae Hong KimSung Min ChoiAe Suk KimDong Hoon KimMoo Kyu Suh. (2009) A Case of Non-Hallopeau-Siemens Recessive Dystrophic Epidermolysis Bullosa. Annals of Dermatology 21:1, pages 49.
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