A patient with mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratodermia syndrome caused by AP1B1 gene variant
| Autor: | Mehmet Sar, Kaya Bilguvar, Beyhan Tüysüz, Rüya Meriç, Yasin Şahin, Adife Gulhan Ercan-Sencicek, Dilek Uludağ Alkaya |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
medicine.medical_specialty
Genotype Adaptor Protein Complex 1 Deafness Pathology and Forensic Medicine Intellectual Disability Genetic variation Medicine Humans Enteropathy Abnormalities Multiple Adaptor Protein Complex beta Subunits Genetic Predisposition to Disease Genetics (clinical) Genetic Association Studies business.industry Ichthyosis Genetic variants Genetic Variation Infant Peripheral Nervous System Diseases General Medicine medicine.disease Phenotype Dermatology Peripheral neuropathy Pediatrics Perinatology and Child Health Female Anatomy business |
| Zdroj: | Clinical dysmorphology. 30(1) |
| ISSN: | 1473-5717 |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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