Literature DB >> 33792916

Additional causal SNRPE mutations in hereditary hypotrichosis simplex.

C Pan1,2, A Humbatova3, L Zheng1,2, N Cesarato3, C Grimm4, F Chen1,2, B Blaumeiser5, A Catalán-Lambán6, A Patiño-García6, U Fischer4, R Cheng1, Y Li1,2, X Yu1, Z Yao1,2, M Li1,2,7, R C Betz3.   

Abstract

Entities:  

Year:  2021        PMID： 33792916     DOI： 10.1111/bjd.20089

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


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  1 in total

1.  A Novel Pathogenic CDH3 Variant underlying Heredity Hypotrichosis Simplex detected by Whole-Exome Sequencing (WES)-A Case Report.

Authors:  Ayat Kadhi; Lamiaa Hamie; Christel Tamer; Georges Nemer; Mazen Kurban
Journal:  Cold Spring Harb Mol Case Stud       Date:  2022-08-05
  1 in total

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