Associated Papers
Clinical and molecular characterization of a Brazilian cohort of campomelic dysplasia patients, and identification of seven new SOX9 mutations.
Mattos EP et al.
Genetics and Molecular Biology, 2015
25983619 (PubMed )
Supplement: 1415-4757-gmb-38-1-14-suppl03.pdf
Patient reports: Two novel frameshift mutations in the SOX9 gene in two patients with campomelic dysplasia who showed long-term survival.
Okamoto T et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2010
[Prenatal diagnosis of camptomelic dysplasia: a case report].
Coutinho T et al.
Revista Brasileira De Ginecologia E Obstetricia : Revista Da Federacao Brasileira Das Sociedades De Ginecologia E Obstetricia, 2008
Lack of the SOX9 gene polymorphism in sex reversal dogs (78,XX; SRY negative).
Nowacka J et al.
The Journal of Heredity, 2005
A novel mutation (296 del G) of the SOX90 gene in a patient with campomelic syndrome and sex reversal.
Ninomiya S et al.
Clinical Genetics, 2000
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