Literature DB >> 16752378

A germline PTEN mutation with manifestations of prenatal onset and verrucous epidermal nevus.

Mustafa Tekin, Burcu Oztürk Hişmi, Suat Fitoz, Fatoş Yalçinkaya, Mesiha Ekim, Aydan Kansu, Mehmet Ertem, Gülhis Deda, Ercan Tutar, Saadet Arsan, Xiao-Ping Zhou, Robert Pilarski, Charis Eng, Nejat Akar.   

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Year:  2006        PMID: 16752378     DOI: 10.1002/ajmg.a.31273

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


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  1 in total

1.  Fetal Megalencephaly with Cortical Dysplasia at 18 Gestational Weeks Related to Paternal UPD Mosaicism with PTEN Mutation.

Authors:  Ritsuko Kimata Pooh; Megumi Machida; Issei Imoto; Eri Noel Arai; Hiroyasu Ohashi; Masayoshi Takeda; Osamu Shimokawa; Kaori Fukuta; Arihiro Shiozaki; Shigeru Saito; Hideaki Chiyo
Journal:  Genes (Basel)       Date:  2021-03-02       Impact factor: 4.096

  1 in total

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