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

Cardio-facio-cutaneous syndrome 3 (CFC3) due to variants in MAP2K1 is a rare genetic disorder manifested mainly by short stature, facial dysmorphism, abnormalities of the cardiovascular system, skin changes, and intellectual disability. The aim of the study is the evaluation of the occurrence of pat...

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Detalles Bibliográficos
Autores principales: Kosztyła-Hojna, Bożena, Borys, Jan, Zdrojkowski, Maciej, Duchnowska, Emilia, Kraszewska, Anna, Wasilewska, Daria, Zweier, Christiane, Midro, Alina Teresa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8433288/
https://www.ncbi.nlm.nih.gov/pubmed/34522120
http://dx.doi.org/10.2147/TACG.S316215

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