Weaver syndrome, type 2

An overgrowth syndrome (OMIM:614421) characterised by accelerated bone and growth maturation, unusual craniofacies (broad forehead and face), ocular hypertelorism, prominent wide philtrum, micrognathia, deep horizontal chin groove, hoarse, low-pitched cry, hypertonia with camptodactyly, and deep-set nails.
Molecular pathology
Caused byefects of EZH2, which encodes a polycomb group (PcG) protein that methylates Lys-9 and Lys-27 residues of histone H3, leading to transcriptional repression of target genes over successive cell generations.

单词	weaver syndrome, type 2
释义	Weaver syndrome, type 2 Weaver syndrome, type 2 An overgrowth syndrome (OMIM:614421) characterised by accelerated bone and growth maturation, unusual craniofacies (broad forehead and face), ocular hypertelorism, prominent wide philtrum, micrognathia, deep horizontal chin groove, hoarse, low-pitched cry, hypertonia with camptodactyly, and deep-set nails. Molecular pathology Caused byefects of EZH2, which encodes a polycomb group (PcG) protein that methylates Lys-9 and Lys-27 residues of histone H3, leading to transcriptional repression of target genes over successive cell generations.
随便看	fsum fsuml f-sum rule fsun fsuna fsuo fsup fsupc fsupd f supp fsupp gmada g-made gmade gmae gmaf gmafb gmag gmagar gmah gmahk gm/ahs gmahs gmai gmaic