Rare Disorder
نویسندگان
چکیده
منابع مشابه
Menkes disease: A rare disorder.
Menkes disease (MD) (OMIM: 309400) is also known as kinky hair disease, trichopoliodystrophy, and steely hair. A 7-months-old, male infant presented to our outpatient department in June 2016 with history of developmental delay and seizures. Seizures started at 3 months of age and worsened progressively to clusters of extensor spasms. Physical examination showed sparse and kinky hair. Neurologic...
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ژورنال
عنوان ژورنال: Nature
سال: 1969
ISSN: 0028-0836,1476-4687
DOI: 10.1038/223760c0