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  3. Research By Disease

Disease: Ectrodactyly cardiopathy dysmorphism

  • 22q11 deletion syndrome and limb anomalies: report on two Brazilian patients
  • A new observation of acro-cardio-facial syndrome substantiates interindividual clinical variability
  • A newborn with ectrodactyly, tetralogy of Fallot, esophageal atresia, hypospadias and TP63 gene mutation: A new type of EEC Syndrome?
  • Acro-cardio-facial syndrome
  • Cleft lip/palate, abnormal ears, ectrodactyly, congenital heart defect, and growth retardation: definition of the acro-cardio-facial syndrome
  • Confirmation of 6q21-6q22.1 deletion in acro-cardio-facial syndrome and further delineation of this contiguous gene deletion syndrome
  • Congenital Malformations Resembling VACTERL Association in a Golden Retriever
  • Ectrodactyly and tetralogy of Fallot in a fetus with del(6)(q21q23)
  • EEC syndrome with a de novo mutation (c.953g > a) on exon 7 of P63 gene: a case report
  • Phenotypic and molecular characterization of 19q12q13.1 deletions: a report of five patients
  • R298Q mutation of p63 gene in autosomal dominant ectodermal dysplasia associated with arrhythmogenic right ventricular cardiomyopathy
  • Radial Ray Malformation
  • Split hand-foot malformation, tetralogy of Fallot, mental retardation and a 1 Mb 19p deletion-evidence for further heterogeneity?
  • Tibial agenesis-ectrodactyly syndrome associated with novel cardiovascular and bronchopulmonary malformations
  • Unilateral Ectrodactyly in a Newborn with Trisomy 18 Syndrome: An Unusual Association
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