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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.
Laboratoire de Génomique et Radiobiologie du Kératinocyte (EA 2541: Université d'Evry/CEA), Service de Génomique Fonctionnelle, Département de Radiobiologie et Radiopathologie, Evry, France.
PMID: 11017065 [PubMed - indexed for MEDLINE]
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Cited by 8 PubMed Central articles
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ReviewHereditary non-syndromic sensorineural hearing loss: transforming silence to sound.
Schrijver I.
J Mol Diagn. 2004 Nov; 6(4):275-84.
[J Mol Diagn. 2004]
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Identification of a locus for type I punctate palmoplantar keratoderma on chromosome 15q22-q24.
Martinez-Mir A, Zlotogorski A, Londono D, Gordon D, Grunn A, Uribe E, Horev L, Ruiz IM, Davalos NO, Alayan O, et al.
J Med Genet. 2003 Dec; 40(12):872-8.
[J Med Genet. 2003]
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Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia.
Paznekas WA, Boyadjiev SA, Shapiro RE, Daniels O, Wollnik B, Keegan CE, Innis JW, Dinulos MB, Christian C, Hannibal MC, et al.
Am J Hum Genet. 2003 Feb; 72(2):408-18. Epub 2002 Nov 27.
[Am J Hum Genet. 2003]
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