Issues Surrounding Prenatal Genetic Testing for Achondroplasia
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|ClinicalTrials.gov Identifier: NCT00001536|
Recruitment Status : Completed
First Posted : December 10, 2002
Last Update Posted : March 4, 2008
National Human Genome Research Institute (NHGRI)
Information provided by:
National Institutes of Health Clinical Center (CC)
No Study Results Posted on ClinicalTrials.gov for this Study
|Recruitment Status :||Completed|
|Primary Completion Date :||No date given|
|Study Completion Date :||July 2000|
Bellus GA, Escallon CS, Ortiz de Luna R, Shumway JB, Blakemore KJ, McIntosh I, Francomano CA. First-trimester prenatal diagnosis in couple at risk for homozygous achondroplasia. Lancet. 1994 Nov 26;344(8935):1511-2.
Bellus GA, Hefferon TW, Ortiz de Luna RI, Hecht JT, Horton WA, Machado M, Kaitila I, McIntosh I, Francomano CA. Achondroplasia is defined by recurrent G380R mutations of FGFR3. Am J Hum Genet. 1995 Feb;56(2):368-73.