Literature DB >> 32112661

Novel TSPEAR mutations in non-syndromic oligodontia.

Ji-Soo Song1, Miah Bae2, Jung-Wook Kim2,3.   

Abstract

Entities:  

Keywords:  zzm321990TSPEARzzm321990; mutation; non-syndromic; oligodontia

Mesh：

Substances：

Year:  2020        PMID： 32112661     DOI： 10.1111/odi.13316

Source DB:  PubMed          Journal:  Oral Dis        ISSN： 1354-523X            Impact factor:   3.511


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  3 in total

1.  Confirmation of a Phenotypic Entity for TSPEAR Variants in Egyptian Ectodermal Dysplasia Patients and Role of Ethnicity.

Authors:  Eman A Rabie; Inas S M Sayed; Khalda Amr; Hoda A Ahmed; Mostafa I Mostafa; Nehal F Hassib; Heba El-Sayed; Suher K Zada; Ghada El-Kamah
Journal:  Genes (Basel)       Date:  2022-06-13       Impact factor: 4.141

2.  Novel homozygous KREMEN1 mutation causes ectodermal dysplasia.

Authors:  Yejin Lee; Hong Zhang; Figen Seymen; Mine Koruyucu; Yelda Kasimoglu; Zang Hee Lee; Jan C-C Hu; James P Simmer; Jung-Wook Kim
Journal:  Oral Dis       Date:  2021-06-09       Impact factor: 4.068

3.  TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study.

Authors:  Bradley Bowles; Alejandro Ferrer; Carla J Nishimura; Filippo Pinto E Vairo; Tristan Rey; Bruno Leheup; Jennifer Sullivan; Kelly Schoch; Nicholas Stong; Emanuele Agolini; Dario Cocciadiferro; Abigail Williams; Alex Cummings; Sara Loddo; Silvia Genovese; Chelsea Roadhouse; Kirsty McWalter; Ingrid M Wentzensen; Chumei Li; Dusica Babovic-Vuksanovic; Brendan C Lanpher; Maria Lisa Dentici; Arun Ankala; J Austin Hamm; Bruno Dallapiccola; Francesca Clementina Radio; Vandana Shashi; Benedicte Gérard; Agnes Bloch-Zupan; Richard J Smith; Eric W Klee
Journal:  Am J Med Genet A       Date:  2021-05-27       Impact factor: 2.802
  3 in total

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