A homozygous loss-of-function mutation in PTPN14 causes a syndrome of bilateral choanal atresia and early infantile-onset lymphedema
Author:
Publisher
Elsevier BV
Subject
Genetics(clinical),Genetics
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2. Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome;Alders;Hum. Genet.,2014
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4. Mouse and human strategies identify PTPN14 as a modifier of angiogenesis and hereditary haemorrhagic telangiectasia;Benzinou;Nat. Commun.,2012
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1. The role of key biomarkers in lymphatic malformation: An updated review;The Journal of Gene Medicine;2024-02
2. Hereditable variants of classical protein tyrosine phosphatase genes: Will they prove innocent or guilty?;Frontiers in Cell and Developmental Biology;2023-01-23
3. Low Efficacy of Genetic Tests for the Diagnosis of Primary Lymphedema Prompts Novel Insights into the Underlying Molecular Pathways;International Journal of Molecular Sciences;2022-07-03
4. Loss-of-Function Variants in the Tumor-Suppressor Gene PTPN14 Confer Increased Cancer Risk;Cancer Research;2021-02-18
5. Association of mutation in PTPN14 gene and gingival fibromatosis with distinctive facies: a novel finding in whole exome sequencing;Clinical Dysmorphology;2021-01-22
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