英语词汇“bresheck syndrome”的英英意思、用法、释义、翻译、读音、例句、短语、词组-英语词典

单词	bresheck syndrome
释义	BRESHECK syndrome BRESHECK syndrome An X-linked MIM 300404 condition defined by the BRESHECK acronym: Brain anomalies; Retardation—mental and growth; Ectodermal dysplasia; Skeletal defects; Hirschsprung’s disease; Ear deformity and deafness/eye hypoplasia; Cleft palate/Cryptorchidism; Kidney dysplasia/hypoplasia. It is similar to BRESEK syndrome but includes Hirschsprung’s disease and Cleft palate/Cryptorchidism. Because both are caused by a mutation in MBTPS2, separation of the two is arbitrary.
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BRESHECK syndrome