{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T16:03:30Z","timestamp":1792166610051,"version":"4.4.0"},"reference-count":9,"publisher":"BMJ","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1973,3]]},"abstract":"<jats:p>It is argued that there are at least two alleles at the achondroplasia locus: one responsible for classic achondroplasia and one responsible for hypochondroplasia. Homozygosity for the achondroplasia gene produces a lethal skeletal dysplasia; homozygosity for hypochondroplasia has not been described. We report here a child considered to be a genetic compound for the achondroplasia and hypochondroplasia alleles.<\/jats:p>","DOI":"10.1136\/jmg.10.1.11","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"11-16","source":"Crossref","is-referenced-by-count":52,"title":["Observations Suggesting Allelism of the Achondroplasia and Hypochondroplasia Genes"],"prefix":"10.1136","volume":"10","author":[{"given":"Victor A.","family":"McKusick","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thaddeus E.","family":"Kelly","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John P.","family":"Dorst","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1973,3,1]]},"reference":[{"issue":"4","key":"ref_1","first-page":"24","article-title":"Two probable cases of homozygosity for the achondroplasia gene. In Birth DeJects: Original Article Series","volume":"5","author":"Hall, J.G.; Dorst, J.P.; Taybi, H.; Scott, C.I.; Langer, Jr., L.O.; McKusick, V.A.","year":"1969","unstructured":"Hall, J. G., Dorst, J. P., Taybi, H., Scott, C. I., Langer, L. O., Jr., and McKusick, V. A. (1969). Two probable cases of homozygosity for the achondroplasia gene. In Birth DeJects: Original Article Series. Clinical Delineation of Birth Defects, 5, pt 4, pp. 24-34. National Foundation-March of Dimes, New York.","journal-title":"Clinical Delineation of Birth Defects"},{"key":"ref_2","article-title":"Mendelian Inheritance in Man. Autosomal Dominant, Autosomal Recessive and X-linked Phenotypes","author":"McKusick, V.A.","year":"1971","unstructured":"McKusick, V. A. (1971). Mendelian Inheritance in Man. Autosomal Dominant, Autosomal Recessive and X-linked Phenotypes, 3rd edition. Johns Hopkins University Press, Baltimore.","edition":"3rd edition"},{"key":"ref_3","article-title":"Disorders of the osseous skeleton. In Heritable Disorders of Connective Tissue","author":"McKusick, V.A.","year":"1972","unstructured":"McKusick, V. A. (1972). Disorders of the osseous skeleton. In Heritable Disorders of Connective Tissue, 4th edition, chapter 13. C. V. Mosby, St Louis."},{"key":"ref_4","article-title":"Phenotypic diversity of human disease resulting from allelic series. American_Journal of human Genetics","author":"McKusick, V.A.","year":"1973","unstructured":"McKusick, V. A. (1973). Phenotypic diversity of human disease resulting from allelic series. American_Journal of human Genetics. (In press.)"},{"key":"ref_5","first-page":"993996","article-title":"Allelism, non-allelism and genetic compounds among the mucopolysaccaridoses","volume":"1","author":"McKuisick, V.A.; Howell, R.R.; Hussels, I.E.; Neufeld, E.F.; Stevenson, R.E.","year":"1972","unstructured":"McKuisick, V. A., Howell, R. R., Hussels, I. E., Neufeld, E. F., and Stevenson, R. E. (1972a). Allelism, non-allelism and genetic compounds among the mucopolysaccaridoses. Lancet, 1, 993996.","journal-title":"Lancet"},{"key":"ref_6","article-title":"Allelism, non-allelism and genetic compounds among the mucopolysaccharidosis: corrective factors in nosology","author":"McKuisick, V.A.; Howell, R.R.; Hussels, I.E.; Neufeld, E.F.; Stevenson, R.E.","year":"1972","unstructured":"McKuisick, V. A., Howell, R. R., Hussels, I. E., Neufeld, E. F., and Stevenson, R. E. (1972b). Allelism, non-allelism and genetic compounds among the mucopolysaccharidosis: corrective factors in nosology. Transactions of the Association of American Phvsicians. (In press.)","journal-title":"Transactions of the Association"},{"key":"ref_7","first-page":"95","volume":"122","author":"Walker, B.A.; Murdoch, J.L.; McKusick, V.A.; Langer, L.O.; Beals, R.K.","year":"1971","unstructured":"Walker, B. A., Murdoch, J. L., McKusick, V. A., Langer, L. O., and Beals, R. K. (1971). Hypochondroplasia. American J7ournal of Diseases of Children, 122, 95-104.","journal-title":"Hypochondroplasia. American J7ournal of Diseases of Children"},{"key":"ref_8","article-title":"The Thalassaemia Syndromes","author":"Weatherall, D.J.; Clegg, J.B.","year":"1972","unstructured":"Weatherall, D. J. and Clegg, J. B. (1972). The Thalassaemia Syndromes, 2nd edition. Blackwell Scientific Publications, Oxford.","edition":"2nd edition"},{"key":"ref_9","article-title":"The five-digit numbers are those assigned to these phenotypes in Mendelian Inheritance in Man","year":"1971","unstructured":"* The five-digit numbers are those assigned to these phenotypes in Mendelian Inheritance in Man (McKusick, 1971)."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.10.1.11","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T05:02:35Z","timestamp":1759726955000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.10.1.11"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1973,3]]},"references-count":9,"journal-issue":{"issue":"1","published-online":{"date-parts":[[1973,3,1]]},"published-print":{"date-parts":[[1973,3]]}},"alternative-id":["10.1136\/jmg.10.1.11"],"URL":"https:\/\/doi.org\/10.1136\/jmg.10.1.11","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1973,3]]}}}