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Mutations in EDA and EDAR Genes in a Large Mexican Hispanic Cohort with Hypohidrotic Ectodermal Dysplasia

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주제분류피부과학

참고문헌 (12)

  1. Visinoni AF, "Ectodermal dysplasias: clinical and molecular review", Am J Med Genet A, 149A, pp.1980~2002 (2009)
  2. Cluzeau C, "Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic", anhidrotic ectodermal dysplasia cases, 2011, pp.32, 70~72
  3. Schneider P, "Mutations leading to X-linked hypohidrotic ectodermal dysplasia affect three major functional domains in the tumor necrosis factor family member ectodysplasin-A", J Biol Chem, 276, pp.18819~18827 (2001)
  4. Vincent MC, "Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia", Eur J Hum Genet, 9, pp.355~363 (2001)
  5. Bashyam MD, "A founder ectodysplasin A receptor (EDAR) mutation results in a high frequency of the autosomal recessive form of hypohidrotic ectodermal dysplasia in India", Br J Dermatol, 166, pp.819~829 (2012)
  6. Clauss F, "X-linked and autosomal recessive Hypohidrotic Ectodermal Dysplasia: genotypic-dental phenotypic findings", Clin Genet, 78, pp.257~266 (2010)
  7. Ewing B, "Base-calling of automated sequencer traces using phred. I. Accuracy assessment", Genome Res, 8, pp.175~185 (1998)
  8. Moya-Quiles MR, "A compound heterozygous mutation in the EDAR gene in a Spanish family with autosomal recessive hypohidrotic ectodermal dysplasia", Arch Dermatol Res, 302, pp.307~310 (2010)
  9. Monreal AW, "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, pp.380~389 (1998)
  10. RamaDevi AR, "Molecular genetic analysis of patients from India with hypohidrotic ectodermal dysplasia reveals novel mutations in the EDA and EDAR genes", Br J Dermatol, 158, pp.163~167 (2008)
  11. "The Human Gene Mutation Database (Internet)" (2014)[URL]
  12. Huttner K, "Future developments in XLHED treatment approaches", Am J Med Genet A, 164A, pp.2433~2436 (2014)

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