The Smith-Lemli-Opitz syndrome (SLOS) is one of the archetypical multiple congenital malformation syndromes. The recent discovery of the biochemical cause of SLOS and ...

Smith-Lemli-Opitz syndrome (SLOS) is a prototypical disorder arising from mutations in the gene encoding 7-dehydrocholesterol reductase (DHCR7). The resultant enzymatic deficiency leads to an ...

本文系统综述 Smith-Lemli-Opitz 综合征（SLOS），聚焦其作为胆固醇生物合成先天性缺陷疾病，阐述临床多系统表现、生化（7 - 脱氢胆固醇 7-DHC> 积累 / 胆固醇缺乏）及遗传（DHCR7 双等位基因变异）特征，总结诊断方法与多模式治疗探索，展望未来研究方向。

Two cases of Smith-Lemli-Opitz syndrome type II are presented. During the late stages of both pregnancies maternal oestriol levels were unrecordable and there was evidence of suppression of maternal ...

Decreased phallic size from hypoplasia of the penis is uncommon; it may be seen with severe forms of hypospadias and chordee. [45] The technical term, micropenis, refers to a penis that is ...

Also benefiting from Fliesler’s research are individuals with Smith-Lemli-Opitz Syndrome, a rare genetic disorder that profoundly affects the nervous system, including eyesight. By creating the first ...

Fliesler continues to investigate retinal diseases and degeneration linked to cholesterol processing, such as Smith-Lemli-Opitz syndrome (SLOS), a birth defect resulting in dysmorphic and cognitive ...

Co-Anchor of 'America Reports with John Roberts & Sandra Smith' Sandra Smith serves as co-anchor of FOX News Channel’s (FNC) America Reports (weekdays 1-3PM/ET). She joined the company in ...

The Smith eDigest is sent to all campus email accounts on Tuesday and Thursday each week during the academic year and on Tuesdays during the summer. Items for eDigest are limited to official Smith ...

Mike Smith is an award-winning editorial cartoonist featured daily in the Las Vegas Sun. Mike's work is syndicated nationally by King Features Syndicate. Read an interview with Mike by his alma ...

AI-generated video just took a great leap forward with Veo 3, Google’s new AI video generation model, and the internet quickly administered the “Will Smith Eating Spaghetti” test.