Usher syndrome

Ush·er syn·drome

(ŭsh'ĕr), [MIM*276900, MIM*276901] autosomal recessive inheritance with genetic heterogeneity; based on gene cloning and location, six forms of type I cause sensorineural hearing loss, loss of vestibular function, and retinitis pigmentosa; three forms of type II and one form of type III are characterized by hearing loss and retinitis pigmentosa.

Ush·er syn·drome

Usher syndrome

(ŭsh′ər)n. An autosomal recessive condition characterized by sensorineural hearing loss and progressive loss of vision due to retinitis pigmentosa.

Usher syndrome

A genetically heterogeneous condition characterised by the association of retinitis pigmentosa and sensorineural deafness; the clinical forms—USH1, USH2 and USH3—are distinguished based on age at onset and differences in auditory and vestibular function.
USH1 is characterised by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness. USH1D/F (OMIM:601067) patients are heterozygous for mutations in CDH23 and PCDH15, indicating a digenic inheritance.
Molecular pathology
Defects of CDH23 cause Usher syndrome types 1D and 1D/F.

Usher syndrome

An AR condition characterized by retinitis pigmentosa–RP and sensorineural deafness

Ush·er syn·drome

(ŭsh'ĕr sin'drōm) Autosomal recessive inheritance with genetic heterogeneity; the three forms are distinguishable by linkage data: Type 1 causes sensorineural hearing loss, loss of vestibular function, and retinitis pigmentosa; types 2 and 3 are characterized by hearing loss and retinitis pigmentosa.

Usher,

Charles Howard, English ophthalmologist, 1865-1942. Usher syndrome - sensorineural hearing loss and retinitis pigmentosa.

单词	usher syndrome
释义	Usher syndrome Ush·er syn·drome (ŭsh'ĕr), [MIM276900, MIM276901] autosomal recessive inheritance with genetic heterogeneity; based on gene cloning and location, six forms of type I cause sensorineural hearing loss, loss of vestibular function, and retinitis pigmentosa; three forms of type II and one form of type III are characterized by hearing loss and retinitis pigmentosa. Ush·er syn·drome (ŭsh'ĕr), [MIM276900, MIM276901] autosomal recessive inheritance with genetic heterogeneity; based on gene cloning and location, six forms of type I cause sensorineural hearing loss, loss of vestibular function, and retinitis pigmentosa; three forms of type II and one form of type III are characterized by hearing loss and retinitis pigmentosa. Usher syndrome (ŭsh′ər)n. An autosomal recessive condition characterized by sensorineural hearing loss and progressive loss of vision due to retinitis pigmentosa. Usher syndrome A genetically heterogeneous condition characterised by the association of retinitis pigmentosa and sensorineural deafness; the clinical forms—USH1, USH2 and USH3—are distinguished based on age at onset and differences in auditory and vestibular function. USH1 is characterised by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness. USH1D/F (OMIM:601067) patients are heterozygous for mutations in CDH23 and PCDH15, indicating a digenic inheritance. Molecular pathology Defects of CDH23 cause Usher syndrome types 1D and 1D/F. Usher syndrome An AR condition characterized by retinitis pigmentosa–RP and sensorineural deafness Ush·er syn·drome (ŭsh'ĕr sin'drōm) Autosomal recessive inheritance with genetic heterogeneity; the three forms are distinguishable by linkage data: Type 1 causes sensorineural hearing loss, loss of vestibular function, and retinitis pigmentosa; types 2 and 3 are characterized by hearing loss and retinitis pigmentosa. Usher, Charles Howard, English ophthalmologist, 1865-1942. Usher syndrome - sensorineural hearing loss and retinitis pigmentosa. AcronymsSeeundersea
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