Katagiri S   Iwasa M   Hayashi T   Hosono K   Yamashita T   Kuniyoshi K   Ueno S   Kondo M   Ueyama H   Ogita H   Shichida Y   Inagaki H   Kurahashi H   Kondo H   Ohji M   Hotta Y   Nakano T   
American Journal of Medical Genetics, Part A 176(5) 1245-1248 2018年5月 [査読有り]
Bohring–Opitz syndrome (BOS) is a rare disease with a number of characteristic features, including hypertelorism, prominent metopic suture, exophthalmos, cleft palate, abnormal posture, and developmental retardation. Here, we report a BOS patient ...
Kumar R   Gardner A   Homan CC   Douglas E   Mefford H   Wieczorek D   Lüdecke HJ   Stark Z   Sadedin S   Broad CMG   Nowak CB   Douglas J   Parsons G   Mark P   Loidi L   Herman GE   Mihalic Mosher T   Gillespie MK   Brady L   Tarnopolsky M   Madrigal I   Eiris J   Domènech Salgado L   Rabionet R   Strom TM   Ishihara N   Inagaki H   Kurahashi H   Dudding-Byth T   Palmer EE   Field M   Gecz J