| 1 | ED2, GJB6
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| GJB6 mutation A88V for hidrotic ectodermal dysplasia in a Chinese family.
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| Shi X, Li D, Chen M, Liu Y, Yan Q, Yu X, Zhu Y, Li Y.
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| Int J Dermatol. Dec;58(12):1462-1465. doi: 10.1111/ijd.14341. Epub 2019 Jan 8. 2019
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| 2 | ED2, GJB6
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| A known mutation in GJB6 in a large Chinese family with hidrotic ectodermal dysplasia.
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| Yang R, Hu Z, Kong Q, Li W, Zhang L, Du X, Huang S, Xia X, Sang H.
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| J Eur Acad Dermatol Venereol. Aug;30(8):1362-5. doi: 10.1111/jdv.13600. Epub 2016 May 3 2016
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| 3 | ED2, GJB6
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| Connexin30 mutations responsible for hidrotic ectodermal dysplasia cause abnormal hemichannel activity.
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| Essenfelder GM, Bruzzone R, Lamartine J, Charollais A, Blanchet-Bardon C, Barbe MT, Meda P, Waksman G.
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| Hum Mol Genet 13(16):1703-14. Epub 2004 Jun 22. 2004
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| 4 | ED2
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| A 1.5-Mb physical map of the hidrotic ectodermal dysplasia (Clouston syndrome) gene region on human chromosome 13q11.
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| Lamartine J, Pitaval A, Soularue P, Lanneluc I, Lemaitre G, Kibar Z, Rouleau GA, Waksman G.
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| Genomics 67(2):232-6. 2000
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| 5 | ED2, GJB6
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| Mutations in GJB6 cause hidrotic ectodermal dysplasia.
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| Lamartine J, Munhoz Essenfelder G, Kibar Z, Lanneluc I, Callouet E, Laoudj D, Lemaitre 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.
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| Nat Genet 26(2):142-4. No abstract available. 2000
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| 6 | ED2, D13S1826, D13S1827, D13S1828, D13S1829, D13S1830, D13S1831, D13S1832, D13S1835, D13S1118, D13S1119, D13S1120, D13S1125, D13S1114, D13S1117, D13S837E, D13S633, D13S250, D13S850E, D13F250S2E, D13S842E, D13S861E
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| A radiation hybrid map of 48 loci including the clouston hidrotic ectodermal dysplasia locus in the pericentromeric region of chromosome 13q.
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| Kibar Z, et al.
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| Genomics 56(1):127-30. 1999
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| 7 | ED2
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| Confirmation of linkage of Clouston syndrome (hidrotic ectodermal dysplasia) to 13q11-q12.1 with evidence for multiple independent mutations.
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| Taylor TD, et al.
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| J Invest Dermatol 111 : 83-85. 1998
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| 8 | ED2
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| The gene for autosomal dominant hidrotic ectodermal dysplasia (Clouston syndrome) in a large Indian family maps to the 13q11-q12.1 pericentromeric region.
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| Radhakrishna U, Blouin JL, Mehenni H, Mehta TY, Sheth FJ, Sheth JJ, Solanki JV, Antonarakis SE.
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| Am J Med Genet 71(1):80-6. 1997
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| 9 | ED2, GJB2, GJB6
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| The gene responsible for Clouston hidrotic ectodermal dysplasia maps to the pericentromeric region of chromosome 13q.
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| Kibar Z, et al.
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| Hum Mol Genet 5 : 543-547. 1996
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