X-linked anhidrotic (hypohidrotic) ectodermal dysplasia caused by a novel mutation in EDA1 gene: 406T>G (Leu55Arg) [5]

Journal of Investigative Dermatology

Volumn 113, Issue 2, 1999, Pages 285-286

  Martínez, Francisco ^a   Millán, José María ^a   Orellana, Carmen ^a   Prieto, Félix ^a  

^a HOSPITAL UNIVERSITARIO LA FE   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

CASE REPORT; ECTODERMAL DYSPLASIA; GENE MUTATION; GENETIC LINKAGE; GENODERMATOSIS; HUMAN; LETTER; MALE; PRIORITY JOURNAL; SKIN DISEASE; X CHROMOSOME INACTIVATION;

EID: 0033506530     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1523-1747.1999.00656.x     Document Type: Letter

References (6)

1. B.M. Ferguson N.S.T. Thomas F. Munoz D. Morgan A. Clake J. Zonana Scarcity of mutations detected in families with X linked hypohidrotic ectodermal dysplasia: diagnostic implications J Med Genet 35 1998 112 115
2. N. Freire-Maia M. Piñeiro Ectodermal dysplasias: a clinical classification and a causal review Am J Med Genet 53 1994 153 162
3. J. Kere A.K. Srivastava O. Montonen X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein Nature Genet 13 1996 409 416
4. F. Martínez M. Tomás J.M. Millán A. Fernández F. Palau F. Prieto Genetic localisation of mental retardation with spastic diplegia to the pericentromeric region of the X chromosome: X inactivation in female carriers J Med Genet 35 1998 284 287
5. A.W. Monreal J. Zonana B. Ferguson Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations Am J Hum Genet 63 1998 380 389
6. E. Pegoraro J. Whitaker P. Mowery-Rushton U. Suti M. Lanasa E.P. Hoffman Familial skewed X inactivation: a molecular trait associated with high spontaneous-abortion rate maps to Xq28 Am J Hum Genet 61 1997 160 170