Literature DB >> 29526031

Novel compound heterozygous mutations in KREMEN1 confirm it as a disease gene for ectodermal dysplasia.

N Intarak1, T Theerapanon2, A Srijunbarl3, K Suphapeetiporn4,5, T Porntaveetus1, V Shotelersuk4,5.   

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Year:  2018        PMID: 29526031     DOI: 10.1111/bjd.16541

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


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  3 in total

1.  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

2.  Phenotypic and Genotypic Features of Thai Patients With Nonsyndromic Tooth Agenesis and WNT10A Variants.

Authors:  Charinya Kanchanasevee; Kanokwan Sriwattanapong; Thanakorn Theerapanon; Sermporn Thaweesapphithak; Wanna Chetruengchai; Thantrira Porntaveetus; Vorasuk Shotelersuk
Journal:  Front Physiol       Date:  2020-11-19       Impact factor: 4.566

Review 3.  Wnt Pathway Extracellular Components and Their Essential Roles in Bone Homeostasis.

Authors:  Núria Martínez-Gil; Nerea Ugartondo; Daniel Grinberg; Susanna Balcells
Journal:  Genes (Basel)       Date:  2022-01-13       Impact factor: 4.096

  3 in total

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