Christ-Siemens-Touraine syndrom—a clinical and genetic analysis of a large Brazilian kindred: III. Carrier detection

✍ Scribed by Pinheiro, M. ;Freire-Maia, N. ;Opitz, John M.

• Publisher: John Wiley and Sons
• Year: 1979
• Tongue: English
• Weight: 317 KB
• Volume: 4
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/ajmg.1320040204

✦ Synopsis

Detection of carriers of the Christ-Siemens-Touraine syndrome on the basis of data of physical examination has been possible in about 60--70% of the cases reported in 44 papers, including a large Brazilian kindred studied by the authors. Partial data, however, showed detection values ranging from 42% to 84%.