CEDNIK syndrome in an Indian patient with a novel mutation of the SNAP29 gene | Zendy

Poojary Shital | Zendy; Shah Kapisha S. | Zendy; Bhalala Krishna B. | Zendy; Hegde Anaita Udwadia | Zendy

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CEDNIK syndrome in an Indian patient with a novel mutation of the SNAP29 gene

Author(s) -

Poojary Shital,

Shah Kapisha S.,

Bhalala Krishna B.,

Hegde Anaita Udwadia

Publication year - 2019

Publication title -

pediatric dermatology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.542

H-Index - 73

eISSN - 1525-1470

pISSN - 0736-8046

DOI - 10.1111/pde.13761

Subject(s) - medicine , microcephaly , dermatology , mutation , ichthyosis , dysgenesis , genetics , gene mutation , palmoplantar keratoderma , pediatrics , gene , hyperkeratosis , anatomy , biology

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.

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