RSH SYNDROME
\ˌɑːɹˌɛsˈe͡ɪt͡ʃ sˈɪndɹə͡ʊm], \ˌɑːɹˌɛsˈeɪtʃ sˈɪndɹəʊm], \ˌɑː_ɹ_ˌɛ_s_ˈeɪ_tʃ s_ˈɪ_n_d_ɹ_əʊ_m]\
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Autosomal recessive disorder characterized by multiple congenital anomalies including microcephaly, mental retardation, unusual facies, and genital abnormalities. The biochemical defect is a lack of 7-dehydrocholesterol-delta-7-reductase, resulting in abnormally high levels of 7-dehydrocholesterol and low levels of cholesterol.
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Word of the day
Platidiam
- An inorganic water-soluble platinum complex. After undergoing hydrolysis, it reacts DNA produce both intra interstrand crosslinks. These crosslinks appear to impair replication and transcription of DNA. The cytotoxicity cisplatin correlates with cellular arrest in G2 phase cell cycle.