Online Mendelian Inheritance in Man (OMIM) (original) (raw)
- Bixler, D., Patel, R. A.Clouston syndrome: a rare autosomal dominant trait with palmoplantar hyperkeratosis and alopecia. (Abstract) Am. J. Hum. Genet. 47 (suppl.): A49, 1990.
- Campbell, C. J., Keokarn, T. A.Squamous-cell carcinoma of the nail bed in epidermal dysplasia. J. Bone Joint Surg. Am. 48: 92-99, 1966. [PubMed: 5902801]
- Clouston, H. R.A hereditary ectodermal dystrophy. Canad. Med. Assoc. J. 21: 18-31, 1929. [PubMed: 20317409]
- Clouston, H. R.The major forms of hereditary ectodermal dysplasia. Canad. Med. Assoc. J. 40: 1-7, 1939. [PubMed: 20321205]
- Escobar, V., Goldblatt, L. I., Bixler, D., Weaver, D.Clouston syndrome: an ultrastructural study. Clin. Genet. 24: 140-146, 1983. [PubMed: 6616952] [Full Text: https://doi.org/10.1111/j.1399-0004.1983.tb02225.x\]
- Gagnon, C. A., Berg, S. Z., Moeschler, J. B.Clouston hydrotic (sic) ectodermal dysplasia: report of a large New England family. (Abstract) Am. J. Hum. Genet. 45 (suppl.): A121, 1989.
- Gold, R. J. M., Scriver, C. R.The characterization of hereditary abnormalities of keratin: Clouston's ectodermal dysplasia. Birth Defects Orig. Art. Ser. 7(8): 91-95, 1971. [PubMed: 5173317]
- Gold, R. J. M., Scriver, C. R.Properties of hair keratin in an autosomal dominant form of ectodermal dysplasia. Am. J. Hum. Genet. 24: 549-561, 1972. [PubMed: 5054225]
- Hassed, S. J., Kincannon, J. M., Arnold, G. L.Clouston syndrome: an ectodermal dysplasia without significant dental findings. Am. J. Med. Genet. 61: 274-276, 1996. [PubMed: 8741874] [Full Text: https://doi.org/10.1002/(SICI)1096-8628(19960122)61:3<274::AID-AJMG13>3.0.CO;2-Q]
- Hayflick, S. J., Taylor, T., McKinnon, W., Guttmacher, A. E., Litt, M., Zonana, J.Clouston syndrome (hidrotic ectodermal dysplasia) is not linked to keratin gene clusters on chromosomes 12 and 17. J. Invest. Derm. 107: 11-14, 1996. [PubMed: 8752831] [Full Text: https://doi.org/10.1111/1523-1747.ep12295239\]
- Joachim, H.Hereditary dystrophy of the hair and nails in six generations. Ann. Intern. Med. 10: 400-402, 1936.
- Kelsell, D. P., Dunlop, J., Stevens, H. P., Lench, N. J., Liang, J. N., Parry, G., Mueller, R. F., Leigh, I. M.Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. Nature 387: 80-83, 1997. [PubMed: 9139825] [Full Text: https://doi.org/10.1038/387080a0\]
- Kibar, Z., Der Kaloustian, V. M., Brais, B., Hani, V., Fraser, F. C., Rouleau, G. A.The gene responsible for Clouston hidrotic ectodermal dysplasia maps to the pericentromeric region of chromosome 13q. Hum. Molec. Genet. 5: 543-547, 1996. [PubMed: 8845850] [Full Text: https://doi.org/10.1093/hmg/5.4.543\]
- Kibar, Z., Dube, M.-P., Powell, J., McCuaig, C., Hayflick, S. J., Zonana, J., Hovnanian, A., Radhakrishna, U., Antonarakis, S. E., Benohanian, A., Sheeran, A. D., Stephan, M. L., Gosselin, R., Kelsell, D. P., Christianson, A. L., Fraser, F. C., Der Kaloustian, V. M., Rouleau, G. A.Clouston hidrotic ectodermal dysplasia (HED): genetic homogeneity, presence of a founder effect in the French Canadian population and fine genetic mapping. Europ. J. Hum. Genet. 8: 372-380, 2000. [PubMed: 10854098] [Full Text: https://doi.org/10.1038/sj.ejhg.5200471\]
- Lamartine, J., Essenfelder, G. M., Kibar, Z., Lanneluc, I., Callouet, E., Laoudj, D., Lemaitre, G., Hand, C., Haylick, S. J., Zonana, J., Antonarakis, S., Radhakrishna, U., Kelsell, D. P., Christianson, A. L., Pitaval, A., Der Kaloustian, V., Fraser, C., Blanchet-Bardon, C., Rouleau, G. A., Waksman, G.Mutations in GJB6 cause hidrotic ectodermal dysplasia. Nature Genet. 26: 142-144, 2000. [PubMed: 11017065] [Full Text: https://doi.org/10.1038/79851\]
- Lamartine, J., Laoudj, D., Blanchet-Bardon, C., Kibar, Z., Soularue, P., Ridoux, V., Dubertret, L., Rouleau, G. A., Waksman, G.Refined localization of the gene for Clouston syndrome (hidrotic ectodermal dysplasia) in a large French family. Brit. J. Derm. 142: 248-252, 2000. [PubMed: 10730756] [Full Text: https://doi.org/10.1046/j.1365-2133.2000.03292.x\]
- MacKay, H., Davidson, A. M.Congenital ectodermal dysplasia. Brit. J. Derm. 41: 1-5, 1929.
- Mauro, J., Maslyn, R., Stein, A. A.Squamous-cell carcinoma of nail bed in hereditary ectodermal dysplasia. N. Y. State J. Med. 1: 1065-1066, 1972.
- Radhakrishna, U., Blouin, J.-L., Mehenni, H., Mehta, T. Y., Sheth, F. J., Sheth, J. J., Solanki, J. V., Antonarakis, S. E.The gene for autosomal dominant hidrotic ectodermal dysplasia (Clouston syndrome) in a large Indian family maps to the 13q11-q12.1 pericentromeric region. Am. J. Med. Genet. 71: 80-86, 1997. [PubMed: 9215774] [Full Text: https://doi.org/10.1002/(sici)1096-8628(19970711)71:1<80::aid-ajmg15>3.0.co;2-r]
- Rajagopalan, K., Tay, C. H.Hidrotic ectodermal dysplasia: study of a large Chinese pedigree. Arch. Derm. 113: 481-484, 1977. [PubMed: 139851] [Full Text: https://doi.org/10.1001/archderm.113.4.481\]
- Scriver, C. R., Solomons, C. C., Davies, E., Williams, M., Bolton, J.A molecular abnormality of keratin in ectodermal dysplasia. (Abstract) J. Pediat. 67: 946, 1965.
- Stevens, H. P., Choon, S. E., Hennies, H. C., Kelsell, D. P.Evidence for a single genetic locus in Clouston's hidrotic ectodermal dysplasia. (Letter) Brit. J. Derm. 140: 963-991, 1999. [PubMed: 10354044] [Full Text: https://doi.org/10.1046/j.1365-2133.1999.02837.x\]
- Taylor, T. D., Hayflick, S. J., McKinnon, W., Guttmacher, A. E., Hovnanian, A., Litt, M., Zonana, J.Confirmation of linkage of Clouston syndrome (hidrotic ectodermal dysplasia) to 13q11-q12.1 with evidence for multiple independent mutations. J. Invest. Derm. 111: 83-85, 1998. [PubMed: 9665391] [Full Text: https://doi.org/10.1046/j.1523-1747.1998.00245.x\]
- Wilkey, W. D., Stevenson, G. H.A family with inherited ectodermal dystrophy. Canad. Med. Assoc. J. 53: 226-230, 1945. [PubMed: 20323542]
- Williams, M., Fraser, F. C.Hidrotic ectodermal dysplasia--Clouston's family revisited. Canad. Med. Assoc. J. 96: 36-38, 1967. [PubMed: 6016585]