CEDNIK syndrome in an Indian patient with a novel mutation of the SNAP29 gene.
Pediatr Dermatol
; 36(3): 372-376, 2019 May.
Article
em En
| MEDLINE
| ID: mdl-30793783
ABSTRACT
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.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Ceratodermia Palmar e Plantar
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Síndromes Neurocutâneas
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Proteínas Qb-SNARE
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Proteínas Qc-SNARE
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Mutação
Limite:
Female
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Humans
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Infant
País/Região como assunto:
Asia
Idioma:
En
Revista:
Pediatr Dermatol
Ano de publicação:
2019
Tipo de documento:
Article