Exome sequencing in a Chinese family reveals TTC9 mutation associated with keratitis-ichthyosis-deafness (KID) syndrome

Subjects

Subjects :

Genetics
Adult
Keratitis
Male
China
business.industry
Nerve Tissue Proteins
Dermatology
Pedigree
030207 dermatology & venereal diseases
03 medical and health sciences
Keratitis ichthyosis deafness
0302 clinical medicine
030220 oncology & carcinogenesis
Mutation (genetic algorithm)
Mutation
Exome Sequencing
Medicine
Humans
Female
Chinese family
business
Child
Exome sequencing
Kid syndrome

Details

ISSN :

19524013

Volume :

28

Issue :

4

Database :

OpenAIRE

Journal :

European journal of dermatology : EJD

Accession number :

edsair.doi.dedup.....c0533d89c525396006974522d98071e3