Uluç Yis Figen Baydan Mert Karakaya Semra Hız Kurul Sebahattin Cirak
10.1155/2016/3128735
Biomed Res Int
2016;2016:3128735.
CC BY
https://pubmed.ncbi.nlm.nih.gov/27123443/
Choline Kinase / genetics Intellectual Disability / genetics Mitochondrial Myopathies / genetics Muscular Dystrophies / genetics
Choline Kinase / genetics Intellectual Disability / genetics Mitochondrial Myopathies / genetics Muscular Dystrophies / genetics Case Reports Child Child, Preschool Diagnosis, Differential High-Throughput Nucleotide Sequencing Humans Ichthyosis / diagnosis Ichthyosis / genetics Ichthyosis / physiopathology Intellectual Disability / diagnosis Intellectual Disability / physiopathology Mitochondrial Myopathies / diagnosis Mitochondrial Myopathies / physiopathology Muscular Dystrophies / diagnosis Muscular Dystrophies / physiopathology Mutation Pruritus / diagnosis Pruritus / genetics Pruritus / physiopathology Psychomotor Disorders / diagnosis Psychomotor Disorders / genetics Psychomotor Disorders / physiopathology Siblings CHKB protein, human Choline Kinase
PMC4830701
27123443
Importance of Skin Changes in the Differential Diagnosis of Congenital Muscular Dystrophies
2016