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C., Fraser, G. R., Friedman, A. I., and Kohner, E. M. (1966). The association of juvenile diabetes mellitus and optic atrophy: clinical and genetical aspects. Quarterly Journal of Medicine, 35, 385-405.","journal-title":"Quarterly Journal of Medicine"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"408","DOI":"10.1136\/jmg.9.4.408","article-title":"Pedigrees with diabetes insipidus, diabetes mellitus and optic atrophy","volume":"9","author":"Sunder, J.H.; Danowski, T.S.; Kenny, F.M.; Khurana, R.C.; Sun, A.; Nolan, S.; Stephan, T.","year":"1972","unstructured":"Sunder, J. H., Danowski, T. S., Kenny, F. M., Khurana, R. C., Sun, A., Nolan, S., and Stephan, T. (1972). Pedigrees with diabetes insipidus, diabetes mellitus and optic atrophy. Journal of Medical Genetics, 9, 408-412.","journal-title":"Journal of Medical Genetics"},{"key":"ref_3","article-title":"Variable manifestations within a family The term pseudohypoparathyroidism (PHP) was first used by Albright","author":"et al. in","year":"1942","unstructured":"Variable manifestations within a family The term pseudohypoparathyroidism (PHP) was first used by Albright et al. (1942) to describe a syndrome characterized by a typical facial appearance and short stature, with clinical and biochemical features suggestive of hypoparathyroidism. One of their 3 patients had short 3rd, 4th, and 5th fingers. All had an absent phosphaturic response to administered parathyroid extract. Surgical exploration of one patient showed normal parathyroid tissue. Similar developmental anomalies, but associated with normal serum calcium and phosphorus levels, were reported by Albright et al. in 1952, and this variant was termed pseudopseudohypoparathyroidism (PPHP). Several other conditions have now been described with dysfunction at various levels of the parathyroid-target tissue axis, with or without abnormal somatic features.","journal-title":"et al; to describe a syndrome characterized by a typical facial appearance and short stature, with clinical and biochemical features suggestive of hypoparathyroidism. One of their 3 patients had short 3rd, 4th, and 5th fingers. All had an absent phosphaturic response to administered parathyroid extract. Surgical exploration of one patient showed normal parathyroid tissue. Similar developmental anomalies, but associated with normal serum calcium and phosphorus levels, were reported by Albright"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"730","DOI":"10.1177\/003591577106400716","article-title":"Juvenile diabetes mellitus, diabetes insipidus and neurological abnormalities","volume":"64","author":"Moore, J.R.","year":"1971","unstructured":"Moore, J. R. (1971). Juvenile diabetes mellitus, diabetes insipidus and neurological abnormalities. Proceedings of the Royal Society of Medicine, 64, 730.","journal-title":"Proceedings of the Royal Society of Medicine"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1677\/joe.0.0650411","article-title":"A radioimmunoassay for plasma arginine-vasopressin in man and dog: application to physiological and pathological states","volume":"65","author":"Morton, J.J.; Padfield, P.L.; Forsling, M.L.","year":"1975","unstructured":"Morton, J. J., Padfield, P. L., and Forsling, M. L. (1975). A radioimmunoassay for plasma arginine-vasopressin in man and dog: application to physiological and pathological states. Journal of Endocrinology, 65, 411-424.","journal-title":"Journal of Endocrinology"},{"key":"ref_6","author":"Page, M.M.; Asmal, A.C.; Edwards, C.R.W.","year":"1976","unstructured":"Page, M. M., Asmal, A. C., and Edwards, C. R. W. (1976)."},{"key":"ref_7","first-page":"505","article-title":"Recessive inheritance of diabetes. The syndrome of diabetes insipidus, diabetes mellitus, optic atrophy and deafness","volume":"45","unstructured":"Recessive inheritance of diabetes. The syndrome of diabetes insipidus, diabetes mellitus, optic atrophy and deafness. Quarterly Journal of Medicine, 45, 505-520.","journal-title":"Quarterly Journal of Medicine"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"419","DOI":"10.1111\/j.0954-6820.1967.tb10865.x","article-title":"Optic atrophy and juvenile diabetes mellitus with familial occurrence","volume":"182","author":"Rorsman, G.; Soderstrom, N.","year":"1967","unstructured":"Rorsman, G., and Soderstrom, N. (1967). Optic atrophy and juvenile diabetes mellitus with familial occurrence. Acta Medica Scandinavica, 182, 419-425.","journal-title":"Acta Medica Scandinavica"},{"key":"ref_9","article-title":"It has been recognized for some time that PHP and PPHP can occur within the same family (Mann et al., 1962). The expression of the physical and biochemical abnormalities in this group of conditions is extremely variable and ranges from short stature, mental retardation, subcutaneous calcification, hypocalcaemia, and many other manifestations to a single small metacarpal. The urinary cyclic adenosine 3'5' monophosphate (cyclic AMP) response to exogenous","unstructured":"It has been recognized for some time that PHP and PPHP can occur within the same family (Mann et al., 1962). The expression of the physical and biochemical abnormalities in this group of conditions is extremely variable and ranges from short stature, mental retardation, subcutaneous calcification, hypocalcaemia, and many other manifestations to a single small metacarpal. 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