A mutation in the connexin 30 gene in Chinese Han patients with hidrotic ectodermal dysplasia.

[1]  E. Jabs,et al.  Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome. , 2002, American journal of human genetics.

[2]  W. McLean,et al.  A novel connexin 30 mutation in Clouston syndrome. , 2002, The Journal of investigative dermatology.

[3]  F. Moreno,et al.  A deletion involving the connexin 30 gene in nonsyndromic hearing impairment. , 2002, The New England journal of medicine.

[4]  D. Hohl,et al.  Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis. , 2000, American journal of human genetics.

[5]  S. Antonarakis,et al.  Mutations in GJB6 cause hidrotic ectodermal dysplasia , 2000, Nature Genetics.

[6]  S. Antonarakis,et al.  Clouston hidrotic ectodermal dysplasia (HED): genetic homogeneity, presence of a founder effect in the French Canadian population and fine genetic mapping , 2000, European Journal of Human Genetics.

[7]  S. Bale,et al.  The spectrum of mutations in erythrokeratodermias--novel and de novo mutations in GJB3. , 2000 .

[8]  G. Rouleau,et al.  Refined localization of the gene for Clouston syndrome (hidrotic ectodermal dysplasia) in a large French family , 2000, The British journal of dermatology.

[9]  D. Kelsell,et al.  Identification of a novel mutation R42P in the gap junction protein beta-3 associated with autosomal dominant erythrokeratoderma variabilis. , 1999, The Journal of investigative dermatology.

[10]  X. Estivill,et al.  Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus , 1999, Nature Genetics.

[11]  D. Kelsell,et al.  Evidence for a single genetic locus in Clouston's hidrotic ectodermal dysplasia , 1999, The British journal of dermatology.

[12]  M. Yeager,et al.  Three-dimensional structure of a recombinant gap junction membrane channel. , 1999, Science.

[13]  J. Nagy,et al.  Connexin30 in rodent, cat and human brain: selective expression in gray matter astrocytes, co-localization with connexin43 at gap junctions and late developmental appearance , 1999, Neuroscience.

[14]  H. Frank,et al.  Developmental expression patterns of connexin26 and -30 in the rat cochlea. , 1999, Developmental genetics.

[15]  A. Guttmacher,et al.  Confirmation of linkage of Clouston syndrome (hidrotic ectodermal dysplasia) to 13q11-q12.1 with evidence for multiple independent mutations. , 1998, The Journal of investigative dermatology.

[16]  J. Blouin,et al.  The gene for autosomal dominant hidrotic ectodermal dysplasia (Clouston syndrome) in a large Indian family maps to the 13q11-q12.1 pericentromeric region. , 1997, American journal of medical genetics.

[17]  K. Willecke,et al.  Molecular Cloning and Functional Expression of Mouse Connexin-30,a Gap Junction Gene Highly Expressed in Adult Brain and Skin* , 1996, The Journal of Biological Chemistry.

[18]  B. Brais,et al.  The gene responsible for Clouston hidrotic ectodermal dysplasia maps to the pericentromeric region of chromosome 13q. , 1996, Human molecular genetics.

[19]  G. Sosinsky,et al.  Mixing of connexins in gap junction membrane channels. , 1995, Proceedings of the National Academy of Sciences of the United States of America.

[20]  Amarjit Singh,et al.  HEREDITARY ECTODERMAL DYSPLASIA. , 1962, The British journal of dermatology.

[21]  Clouston Hr.  THE MAJOR FORMS OF HEREDITARY ECTODERMAL DYSPLASIA : (With an Autopsy and Biopsies on the Anhydrotic Type). , 1939 .

[22]  Clouston Hr.  A Hereditary Ectodermal Dystrophy. , 1929 .