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Rapadilino syndrome : ウィキペディア英語版 | Rapadilino syndrome
Rapadilino syndrome is an autosomal recessive congenital disorder characterized by radial and patellar aplasia, short stature, arched or cleft palate, limb malformation, and dislocated joints.〔 It is more prevalent in Finland than elsewhere in the world. It has been associated with RECQL4. This is also associated with Rothmund-Thomson syndrome and Baller-Gerold syndrome. ==External links==
*( GeneReviews/NCBI/NIH/UW entry on Baller-Gerold Syndrome )
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「Rapadilino syndrome」の詳細全文を読む
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