Literature DB >> 22458588

A novel mutation in the PLCD1 gene, which leads to an aberrant splicing event, underlies autosomal recessive leuconychia.

M Farooq, M Kurban, O Abbas, O Obeidat, H Fujikawa, A-G Kibbi, A Fujimoto, Y Shimomura.   

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Year:  2012        PMID： 22458588     DOI： 10.1111/j.1365-2133.2012.10962.x

Source DB:  PubMed          Journal:  Br J Dermatol        ISSN： 0007-0963            Impact factor:   9.302


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  4 in total

1.  Whole exome sequencing identifies a novel dominant missense mutation underlying leukonychia in a Pakistani family.

Authors:  Teka Khan; Manan Khan; Ayesha Yousaf; Saadullah Khan; Muhammad Naeem; Akram Shah; Ghulam Murtaza; Asim Ali; Nazish Jabeen; Hafiz Muhammad Jafar Hussain; Hui Ma; Yuanwei Zhang; Muhammad Zubair; Xiaohua Jiang; Huan Zhang
Journal:  J Hum Genet       Date:  2018-07-23       Impact factor: 3.172

2.  Hereditary Leukonychia Totalis: A Case Report and Review of the Literature.

Authors:  Kallapan Pakornphadungsit; Poonkiat Suchonwanit; Tueboon Sriphojanart; Pamela Chayavichitsilp
Journal:  Case Rep Dermatol       Date:  2018-04-12

3.  Mutation in Phospholipase C, δ1 (PLCD1) Gene Underlies Hereditary Leukonychia in a Pashtun Family and Review of the Literature.

Authors:  A K Khan; S A Khan; Na Muhammad; No Muhammad; J Ahmad; H Nawaz; A Nasir; S Farman; S Khan
Journal:  Balkan J Med Genet       Date:  2018-10-29       Impact factor: 0.519

Review 4.  Leukonychia: What Can White Nails Tell Us?

Authors:  Matilde Iorizzo; Michela Starace; Marcel C Pasch
Journal:  Am J Clin Dermatol       Date:  2022-02-02       Impact factor: 7.403
  4 in total

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