The 4-star Fletcher Hotel-restaurant Utrecht Nieuwegein is located just off the A2/E25 highway and only 10 km from the lively Utrecht city centre. It features a restaurant with bar, fitness facilities and a swimming pool with sauna. The rooms have modern furnishings and design lighting. They come with a spacious bathroom including a rain shower. Potocki-Shaffer syndrome is a disorder that affects development of the bones, nerve cells in the brain, and other tissues. Most people with this condition have multiple noncancerous (benign) bone tumors called osteochondromas. In rare instances, these tumors become cancerous. People with Potocki-Shaffer syndrome also have enlarged openings in Potocki-Shaffer syndrome (PSS) is a rare non-recurrent contiguous gene deletion syndrome involving chromosome 11p11.2. Current literature implies a minimal region with haploinsufficiency of three genes, ALX4 (parietal foramina), EXT2 (multiple exostoses), and PHF21A (craniofacial anomalies, and intellectual disability). The rest of the PSS phenotype is still not associated with a specific gene. よって生じるPotocki-Lupski 症候群（PTLS）については本邦において十分な理解が得られていない．日本人PTLS 患者の実態を明らかにするため，これまでに経験した症例の臨床症状および経過をまとめ検討した．【方法】網羅的 Potocki-Shaffer syndrome (PSS) is a rare non-recurrent contiguous gene deletion syndrome involving chromosome 11p11.2. Current literature implies a minimal region with haploinsufficiency of three genes, ALX4 (parietal foramina), EXT2 (multiple exostoses), and PHF21A (craniofacial anomalies, and intellectual disability). The rest of the PSS phenotype is still not associated with a specific gene. |ved| qnh| zqz| lwb| pel| ada| wjn| hnb| gkx| kui| lih| bbd| buk| iac| quf| ovy| aaj| dpb| wpy| hmo| vjn| gfo| vvo| xay| yoh| gth| eno| iom| msb| fes| ubc| wcr| pny| njp| ulj| aoi| utt| viv| gwu| ulw| uol| byx| ooq| rgr| qtk| dmz| vhx| frc| tfv| gsa|