Disease: Hypertrichosis retinopathy dysmorphism
- Allelism, non-allelism, and genetic compounds among the mucopolysaccharidoses
- Basolateral Mg2+ extrusion via CNNM4 mediates transcellular Mg2+ transport across epithelia: a mouse model
- Cantú Syndrome
- Cone-rod congenital amaurosis associated with congenital hypertrichosis: an autosomal recessive condition
- Cone-rod dystrophy and amelogenesis imperfecta (Jalili syndrome): phenotypes and environs
- Cone-rod dystrophy associated with amelogenesis imperfecta in a child with neurofibromatosis type 1
- Dental phenotype in Jalili syndrome due to a c.1312 dupC homozygous mutation in the CNNM4 gene
- Diagnosis of hereditary mucopolysaccharidoses
- Diseases caused by genetic defects in lysosomal muco-polysaccharide-catabolism. Mucopolysaccharidoses
- Hereditary mucopolysaccharidoses
- Hypertrichosis, pigmentary retinopathy, and facial anomalies: a new syndrome?
- Mucopolysaccharidoses
- Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes
- Ocular manifestations of Donohue's syndrome
- Ophthalmologic findings in the Cornelia de Lange syndrome
- Retinal changes and tumorigenesis in Ramon syndrome: follow-up of a Brazilian family
- Retinal changes in familial peripheral sensory and motor neuropathy associated with anterior cervical hypertrichosis
- Successful rhIGF1 treatment for over 5 years in a patient with severe insulin resistance due to homozygous insulin receptor mutation
- The 1st Italian family with Scheie's disease or late Hurler's disease as studied by European authors
- The systemic mucopolysaccharidoses
- The systemic mucopolysaccharidoses. Ultrastructural and histochemical studies of conjunctiva and skin