Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis.
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Altunoglu U, et al. Among authors: valencia m.
J Med Genet. 2024 Jun 20;61(7):633-644. doi: 10.1136/jmg-2023-109546.
J Med Genet. 2024.
PMID: 38531627
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