CEDNIK syndrome in an Indian patient with a novel mutation of the SNAP29 gene
| Autor: | Anaita Udwadia Hegde, Kapisha S. Shah, Krishna B. Bhalala, Shital Poojary |
|---|---|
| Rok vydání: | 2019 |
| Předmět: |
Microcephaly
medicine.medical_specialty India Dermatology 030207 dermatology & venereal diseases 03 medical and health sciences Facial dysmorphism 0302 clinical medicine Keratoderma Palmoplantar Humans Medicine Qc-SNARE Proteins Keratoderma Gene business.industry Ichthyosis Neurocutaneous Syndromes Cerebral dysgenesis Infant Qb-SNARE Proteins medicine.disease 030220 oncology & carcinogenesis Mutation Pediatrics Perinatology and Child Health CEDNIK syndrome Female business Novel mutation |
| Zdroj: | Pediatric Dermatology. 36:372-376 |
| ISSN: | 1525-1470 0736-8046 |
| DOI: | 10.1111/pde.13761 |
| Popis: | CEDNIK (CErebral Dysgenesis, Neuropathy, Ichthyosis, and Keratoderma) syndrome is a neuroichthyotic syndrome characterized by a constellation of clinical features including severe developmental retardation, microcephaly, and facial dysmorphism. Here, we report the first case of CEDNIK syndrome from India presenting with characteristic clinical features and harboring a novel mutation of SNAP29 gene. |
| Databáze: | OpenAIRE |
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