Disease: Bustos Simosa Pinto Cisternas syndrome
- Autosomal recessive cleft lip/palate, ectodermal dysplasia, and minor acral anomalies: report of a Brazilian family
- Autosomal recessive ectodermal dysplasia, cleft lip/palate, mental retardation, and syndactyly: the Zlotogora-Ogur syndrome
- Autosomal recessive ectodermal dysplasia: I. An undescribed dysplasia/malformation syndrome
- Autosomal recessive transmission of a rare KRT74 variant causes hair and nail ectodermal dysplasia: allelism with dominant woolly hair/hypotrichosis
- Classification of aplasia cutis congenita: a 25-year review of cases presenting to a tertiary paediatric dermatology department
- Cleft palate and ADULT phenotype in a patient with a novel TP63 mutation suggests lumping of EEC/LM/ADULT syndromes into a unique entity: ELA syndrome
- Clinical, genetic, epidemiologic, evolutionary, and functional delineation of <em>TSPEAR</em>-related autosomal recessive ectodermal dysplasia 14
- Dental management of a child with ectrodactyly ectodermal dysplasia cleft lip/palate syndrome: A case report
- Ectodermal dysplasia, cleft lip/palate, and severe cutaneous and osseous syndactyly in a mentally retarded girl: a new multiple malformation syndrome
- Mutations in GRHL2 result in an autosomal-recessive ectodermal Dysplasia syndrome
- Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome
- Novel homozygous mutation, c.400C>T (p.Arg134*), in the PVRL1 gene underlies cleft lip/palate-ectodermal dysplasia syndrome in an Asian patient
- TP63-related disorders: two case reports and a brief review of the literature