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Confirmation of FZD5 implication in a cohort of 50 patients with ocular coloboma
UploadFacial dysmorphism is influenced by ethnic background of the patient and of the evaluator
UploadAutosomal recessive variations of TBX6, from congenital scoliosis to spondylocostal dysostosis.
UploadIncomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.
Download from www.nature.comBaraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases
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