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Qazi–Markouizos syndrome : ウィキペディア英語版 | Qazi–Markouizos syndrome
Qazi–Markouizos syndrome is a rare hereditary condition characterized by non-progressive, congenital hypotonia, severe intellectual disability, an increased proportion of type 2 muscle fibers, which additionally exhibited increased size, as well as dysharmonic skeletal maturation. To date, the molecular etiology of Qazi–Markouizos syndrome, which is also known as Puerto Rican infant hypotonia syndrome,〔(OMIM Entry - 600096 - PUERTO RICAN INFANT HYPOTONIA SYNDROME )〕 remains unknown. ==References==
抄文引用元・出典: フリー百科事典『 ウィキペディア(Wikipedia)』 ■ウィキペディアで「Qazi–Markouizos syndrome」の詳細全文を読む
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