Association of mutation in PTPN14 gene and gingival fibromatosis with distinctive facies: a novel finding in whole exome sequencing-Reference-Cited by-同舟云学术

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Association of mutation in PTPN14 gene and gingival fibromatosis with distinctive facies: a novel finding in whole exome sequencing

Published:2021-01-22 Issue:2 Volume:30 Page:93-99
ISSN:0962-8827
Container-title:Clinical Dysmorphology
language:en
Short-container-title:

Author:

Cogulu Ozgur,Mojarrab Neda,Simsir Ozguc S.,Durmaz Asude,Aykut Ayca,Cogulu Dilsah

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Genetics(clinical),General Medicine,Pathology and Forensic Medicine,Anatomy,Pediatrics, Perinatology, and Child Health

Reference16 articles.

1. A method and server for predicting damaging missense mutations.;Adzhubei;Nat Methods,2010

2. Protein tyrosine phosphatase PTPN14 Is a regulator of lymphatic function and choanal development in humans.;Au;Am J Hum Genet,2010

3. REST final-exon-truncating mutations cause hereditary gingival fibromatosis.;Bayram;Am J Hum Genet,2017

4. A homozygous loss-of-function mutation in PTPN14 causes a syndrome of bilateral choanal atresia and early infantile-onset lymphedema: PTPN14 mutation in lymphedema-choanal atresia.;Bordbar;Meta Gene,2017

5. Choanal Atresia and Lymphedema.;Borderon;Ann Otol Rhinol Laryngol,1991

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Hereditable variants of classical protein tyrosine phosphatase genes: Will they prove innocent or guilty?;Frontiers in Cell and Developmental Biology;2023-01-23

2. Recurrent PTPN14 Mutations in Trichilemmoma: Evidence for Distinct Pathways of Molecular Pathogenesis;The American Journal of Dermatopathology;2021-07-02

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