Tel-Hashomer camptodactyly syndrome with hirsuitism in an Indian family.
Two new cases with the Tel-Hashomer camptodactyly syndrome have been ascertained in an Indian family. This report emphasizes the autosomal recessive nature of disease and documents an additional feature of hirsuitism not previously described. The gene for Tel-Hashomer camptodactyly syndrome is present in all populations around the world.
Patel
Zareen M
ZM
Genetic Research Centre, National Institute for Research in Reproductive Health, JM Street, Parel, Mumbai 400 012, India.
Adhia
Rashmi A
RA
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D004268:DNA-Binding Proteins / Q000235:genetics; D005260:Female; D006228:Hand Deformities, Congenital / Q000150:complications* / Q000235:genetics; D006628:Hirsutism / Q000150:complications* / Q000235:genetics; D006801:Humans; D009687:Nuclear Proteins / Q000235:genetics; D050783:Proto-Oncogene Proteins c-ets; D012097:Repressor Proteins / Q000235:genetics; D035781:Siblings; D013577:Syndrome; D000097764:ETS Translocation Variant 6 Protein
D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; D050783:Proto-Oncogene Proteins c-ets; D012097:Repressor Proteins; D000097764:ETS Translocation Variant 6 Protein