Covers abstract, introduction, case report, discussion, and related references.

Illustrated review article looks at history, clinical features, genetics, orthologues in other species, and genotype and phenotype.

Offers description, clinical features, inheritance, molecular genetics, and animal model. Includes link to clinical synopsis.

Gives a history of this disease, the medical manifestations, and references. Also a newsletter, calendar events, and a list of medical resources and support.

Centre for Arab Genomic Studies provides alternative names, incidence, description, molecular genetics, and epidemiology.

Includes synonym, characteristics, diagnosis, clinical description, prevalence, management, and genetics counseling.