• A novel chondroectodermal dysplasia mapped to chromosome 2q24.1-q31.1
• A novel missense variant in cathepsin C gene leads to PLS in a Chinese patient: A case report and literature review
• Asphyxiating thoracic dystrophy (Jeune's disease) with retinal aplasia: a sibship of two
• Cicatrising conjunctivitis with anti-basement membrane autoantibodies in ectodermal dysplasia
• Ciliopathy--cause of several peculiar syndromes
• Clinical and histopathological findings in an unknown oculocerebral abnormality syndrome
• Congenital symblephara, progressive corneal pannus, and skin defects
• Contrasting features of insulin dependent diabetes mellitus associated with neuroectodermal defects and classical insulin dependent diabetes mellitus
• Correction of Mutant p63 in EEC Syndrome Using siRNA Mediated Allele-Specific Silencing Restores Defective Stem Cell Function
• Do you know this syndrome?
• Ectodermal dysplasia with blindness in sibs on the island of Rodrigues
• Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome
• Ectrodactyly-ectodermal dysplasia-clefting syndrome causing blindness in a child
• Ectrodactyly-ectodermal dysplasia-clefting syndrome presenting with bilateral choanal atresia and rectal stenosis
• GENE INACTIVATION: THE DISTRIBUTION OF GENE PRODUCTS AMONG POPULATIONS OF CELLS IN HETEROZYGOUS HUMANS
• Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
• Incontinentia pigmenti (Bloch-Sulzberger syndrome)
• Intrafamilial phenotypic variability in autosomal recessive DOCK6-related Adams-Oliver syndrome
• Neurocristopathies: Enigmatic Appearances of Neural Crest Cell-derived Abnormalities
• No Perception of Light in a Child With Wyburn-Mason Syndrome
• Ocular Manifestations in Patients Affected by p63-Associated Disorders: Ectrodactyly-Ectodermal Dysplasia-Clefting (EEC) and Ankyloblepharon-Ectodermal Defects-Cleft Lip Palate (AEC) Syndromes
• Ocular manifestations of facial port-wine stain, nevus of Ota, and phakomatosis pigmentovascularis in Asian patients
• Ocular manifestations of genetic skin disorders
• Ocular Manifestations of Pediatric Systemic Diseases
• Oral Mucosa-Derived Induced Pluripotent Stem Cells from Patients with Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome
• Poikiloderma of the mucous membranes (pillat 1949) (author's transl)
• Significant ophthalmoarthropathy associated with ectodermal dysplasia in a child with Marshall-Stickler overlap: a case report
• Splice site mutations in the P-cadherin gene underlie hypotrichosis with juvenile macular dystrophy
• The chromatin remodeling protein CHD7, mutated in CHARGE syndrome, is necessary for proper craniofacial and tracheal development
• The first reported case of <em>CDH3</em>-related hypotrichosis with juvenile macular dystrophy from Jordan: a case report
• The genetics of human hair growth
• The risk of glaucoma associated with phacomatosis cesioflammea and phacomatosis cesioflammeo-marmorata
• The spectrum of oculocutaneous disease: Part II. Neoplastic and drug-related causes of oculocutaneous disease
• Usher syndrome in a patient with Ellis-van Creveld syndrome
• Visual rehabilitation in end-stage inflammatory ocular surface disease with the osteo-odonto-keratoprosthesis: results from the UK
• X-linked anhidrotic ectodermal dysplasia disruption yields a mouse model for ocular surface disease and resultant blindness