Irmãos afetados pela síndrome de ectrodactilia, displasia ectodérmica e fissura labiopalatal (eec) com pais hígidos: mosaicismo germinativo?

Rosa, Rafael Fabiano Machado; Moraes, Samir Abou Ghaouche de; Sulczinski, Leonardo Paludo; Silva, Filipe Augusto da; Milner, Olga Gaio; Pires, Silvana Rodrigues Streit; Artigalas, Osvaldo Alfonso Pinto; Rosa, Rosana Cardoso Manique; Zen, Paulo Ricardo Gazzola.
Rev. paul. pediatr ; 35(2): 234-238, abr.-jun. 2017. tab, graf
Artigo em Português | LILACS | ID: biblio-902837

Documentos relacionados

  1. SIBLINGS AFFECTED BY ECTRODACTYLY-ECTODERMAL DYSPLASIA AND CLEFT LIP/PALATE (EEC) SYNDROME PRESENTING NORMAL PARENTS: GERMLINE MOSAICISM?
  2. Clinical and Molecular Genetic Analysis of Cases with Ectodermal Dysplasia.
  3. [Identification of a Tp63 gene variant in an abortus with Ectrodactyly, Ectodermal dysplasia, Cleft lip/palate syndrome by whole-exome sequencing].
  4. A case of MBTPS1-related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype-phenotype expansion and the emergence of a novel syndrome.
  5. Cleft Lip and Palate in Ectodermal Dysplasia.
  6. Effects of TP63 mutations on keratinocyte adhesion and migration.
  7. TP63-related disorders: two case reports and a brief review of the literature.
  8. Analysis and pharmacological modulation of senescence in human epithelial stem cells.
  9. p63 in corneal and epidermal differentiation.
  10. Overlap between EEC and AEC syndrome and immunodeficiency in a preterm infant with a TP63 variant.