Fetal Anomalies Associated with Novel Pathogenic Variants in TMEM94

Background: Intellectual developmental disorder with cardiac defects and dysmorphic facies (IDDCDF, MIM 618316) is a newly described disorder. It is characterized by global developmental delay, intellectual disability and speech delay, congenital cardiac malformations, and dysmorphic facial features...

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Dades bibliogràfiques
Publicat a:Genes (Basel)
Autors principals: Al-Hamed, Mohamed H., Alsahan, Nada, Tulbah, Maha, Kurdi, Wesam, Ali, Wafa’a I., Sayer, John A., Imtiaz, Faiqa
Format: Artigo
Idioma:Inglês
Publicat: MDPI 2020
Matèries:
Brief Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7565137/
https://ncbi.nlm.nih.gov/pubmed/32825426
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes11090967
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