Phoniatric, Audiological, Orodental and Speech Problems in a Boy with Cardio-Facio-Cutaneous Syndrome Type 3 (CFC 3) Due to a Pathogenic Variant in MAP2K1

Phoniatric, Audiological, Orodental and Speech Problems in a Boy with Cardio-Facio-Cutaneous Syndrome Type 3 (CFC 3) Due to a Pathogenic Variant in MAP2K1 – Case Study

Published:2021-09 Issue: Volume:Volume 14 Page:389-398
ISSN:1178-704X
Container-title:The Application of Clinical Genetics
language:en
Short-container-title:TACG

Author:

Kosztyła-Hojna Bożena,Borys Jan,Zdrojkowski Maciej,Duchnowska Emilia^ORCID,Kraszewska Anna^ORCID,Wasilewska Daria,Zweier Christiane,Midro Alina Teresa

Publisher

Informa UK Limited

Subject

Genetics (clinical),Genetics

Reference32 articles.

1. Cardio-facio-cutaneous syndrome-associated pathogenic MAP2K1 variants activate autophagy

2. Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype–phenotype correlations

3. Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype phenotype relationships and overlap with Costello syndrome

4. MEK1 mutations confer resistance to MEK and B-RAF inhibition

5. Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: Overlapping clinical manifestations with Costello syndrome

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. Case report: The cardio-facio-cutaneous syndrome due to a novel germline mutation in MAP2K1: A multifaceted disease with immunodeficiency and short stature;Frontiers in Pediatrics;2022-10-14

2. Nonreceptor Protein Kinases and Phosphatases Necessary for Auditory Function;Auditory System - Function and Disorders;2022-09-28