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Mutations in GJB6 cause hidrotic ectodermal dysplasia.
Lamartine J, Munhoz Essenfelder G, Kibar Z, Lanneluc I, Callouet E, Laoudj D, Lemaître G, Hand C, Hayflick SJ, Zonana J, Antonarakis S, Radhakrishna U, Kelsell DP, Christianson AL, Pitaval A, Der Kaloustian V, Fraser C, Blanchet-Bardon C, Rouleau GA, Waksman G. Lamartine J, et al. Nat Genet. 2000 Oct;26(2):142-4. doi: 10.1038/79851. Nat Genet. 2000. PMID: 11017065 No abstract available.
Familial spinocerebellar degeneration with corneal dystrophy.
Der Kaloustian VM, Jarudi NI, Khoury MJ, Afifi AK, Bahuth NB, Deeb ME, Shammas J, Mikati MA. Der Kaloustian VM, et al. Am J Med Genet. 1985 Feb;20(2):325-39. doi: 10.1002/ajmg.1320200216. Am J Med Genet. 1985. PMID: 3872072
137 results