| 概要 |
Ectodermal dysplasia, Clouston type, also known as Clouston syndrome, is an autosomal dominant disorder characterized by partial or total alopecia, nail dystrophy, hyperkeratosis of the palms and soles, and hyperpigmentation over the joints. Teeth are normal. Mutated connexin in the disease impairs formation of gap junction channels.
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| 著者 |
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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