Associated Papers
Tenuous transcriptional threshold of human sex determination. II. SRY exploits water-mediated clamp at the edge of ambiguity.
Racca JD et al.
Frontiers in Endocrinology, 2022
36568077 (PubMed )
Supplement: DataSheet_1.pdf
SOX9 p.Lys106Glu mutation causes acampomelic campomelic dysplasia: Prenatal and postnatal clinical findings.
Preiksaitiene E et al.
American Journal of Medical Genetics. Part A, 2016
Testicular dysgenesis/regression without campomelic dysplasia in patients carrying missense mutations and upstream deletion of SOX9.
Katoh-Fukui Y et al.
Molecular Genetics & Genomic Medicine, 2015
Subnuclear re-localization of SOX10 and p54NRB correlates with a unique neurological phenotype associated with SOX10 missense mutations.
Chaoui A et al.
Human Molecular Genetics, 2015
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
Acampomelic form of campomelic dysplasia with SOX9 missense mutation.
Gopakumar H et al.
Indian Journal of Pediatrics, 2014
Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome.
Chaoui A et al.
Human Mutation, 2011
Heterozygous SOX9 mutations allowing for residual DNA-binding and transcriptional activation lead to the acampomelic variant of campomelic dysplasia.
Staffler A et al.
Human Mutation, 2010
Campomelic acampomelic dysplasia presenting with increased nuchal translucency in the first trimester.
Michel-Calemard L et al.
Prenatal Diagnosis, 2004
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