التفاصيل البيبلوغرافية
| العنوان: |
A girl with a neurodevelopmental syndrome, adducted thumbs and frequent infections caused by novel homozygous variant in DEAF1 |
| المؤلفون: |
Dulika S. Sumathipala, Tuva Barøy, Thilini H. Gamage, Selma Mujezinovic Larsen, Eirik Frengen, Doriana Misceo, Petter Strømme |
| المصدر: |
Clinical Dysmorphology. 29:107-110 |
| بيانات النشر: |
Ovid Technologies (Wolters Kluwer Health), 2020. |
| سنة النشر: |
2020 |
| مصطلحات موضوعية: |
Pathology, medicine.medical_specialty, media_common.quotation_subject, Pathology and Forensic Medicine, Adducted thumb, medicine, Humans, Girl, Child, Genetics (clinical), media_common, medicine.diagnostic_test, business.industry, Homozygote, Brain, Facies, Electroencephalography, Magnetic resonance imaging, Karyotype, Syndrome, General Medicine, Magnetic Resonance Imaging, Chromosome Banding, DNA-Binding Proteins, Phenotype, Thumb, Neurodevelopmental Disorders, Mutation, Pediatrics, Perinatology and Child Health, Frequent infections, Mutation (genetic algorithm), Female, Anatomy, business, Transcription Factors |
| تدمد: |
0962-8827 |
| DOI: |
10.1097/mcd.0000000000000314 |
| URL الوصول: |
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::644a485aa9055f7985192c24e4422bd5
https://doi.org/10.1097/mcd.0000000000000314 |
| رقم الانضمام: |
edsair.doi.dedup.....644a485aa9055f7985192c24e4422bd5 |
| قاعدة البيانات: |
OpenAIRE |