[Clinical and genetic analysis of the Townes-Brocks syndrome].
Due to the performed analysis of data from literature and the author's observations of the Taunse-Brock's syndrome a wide variability of phenotypic manifestations is shown, the diagnostic criteria of syndrome are determined, its autosomic-dominant inheritance with complete penetrance is confirmed.
Il'ina
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EG
Laziuk
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GI
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D002675:Child, Preschool; D003638:Deafness / Q000235:genetics; D004431:Ear, External / Q000002:abnormalities; D005260:Female; D005385:Fingers / Q000002:abnormalities; D005799:Genes, Dominant / Q000235:genetics; D006801:Humans; D007420:Intestine, Large / Q000002:abnormalities; D007668:Kidney / Q000002:abnormalities; D008297:Male; D010641:Phenotype; D013577:Syndrome
Klinicheskiĭ i geneticheskiĭ analiz sindroma Taunsa-Broksa.