Novel GJA1 mutations in patients with oculo-dento-digital dysplasia (ODDD)

Cardiac Malformation in Neonatal Mice Lacking Connexin43

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Connexin Mutations in X-Linked Charcot-Marie-Tooth Disease

JoAnn Bergoffen, S. S. Scherer, S. Wang et al. · Science · 1993 · 1.1K citations

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Connexin 43 (GJA1) Mutations Cause the Pleiotropic Phenotype of Oculodentodigital Dysplasia

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Life Sciences, Genetics, Molecular Genetics +12

Connexin43 Deficiency Causes Delayed Ossification, Craniofacial Abnormalities, and Osteoblast Dysfunction

Fernando Lecanda, Pamela M. Warlow, Sharmin Sheikh et al. · The Journal of Cell Biology · 2000 · 397 citations · Full text

Medicine, Developmental Biology, Genetics +17

Missense Mutations in GJB2 Encoding Connexin-26 Cause the Ectodermal Dysplasia Keratitis-Ichthyosis-Deafness Syndrome

Gabriele Richard, Fatima Rouan, Colin E. Willoughby et al. · The American Journal of Human Genetics · 2002 · 373 citations · Full text

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