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• W2018685275 abstract "During a six-year period, an adolescent girl developed a polyglandular disease characterized by hypoparathyroidism, chemical diabetes, growth failure and pubertal delay, hypercholesterolemia, and hypomagnesemia. A slowly progressive neurological disorder occurred simultaneously, consisting of progressive external ophthalmoplegia, mitochondrial myopathy, ataxia, neural deafness, mental subnormality, atypical retinitis, corneal dystrophy, cataract, and increased protein level in the cerebrospinal fluid. An intracardiac conduction defect was also found. This disorder, the cause of which is uncertain, is termed oculocraniosomatic disease. Our patient is apparently unique in that there was an associated hypoparathyroidism." @default.
• W2018685275 created "2016-06-24" @default.
• W2018685275 creator A5034213401 @default.
• W2018685275 date "1977-04-01" @default.
• W2018685275 modified "2023-09-25" @default.
• W2018685275 title "Oculocraniosomatic Neuromuscular Disease With Hypoparathyroidism" @default.
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• W2018685275 doi "https://doi.org/10.1001/archpedi.1977.02120170063012" @default.
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