Exclusion of allelism and close linkage between neurofibromatosis and multiple cartilaginous exostoses
Short stature and multiple hyperplastic lesions with a potential for malignant degeneration are among the clinical manifestations of both neurofibromatosis I (NF I) and multiple cartilaginous exostoses (MCE). The coexistence of both NF I and MCE in a family provided an opportunity to observe the int...
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| Veröffentlicht in: | American journal of medical genetics 1989-01, Vol.32 (1), p.145-145 |
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| container_end_page | 145 |
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| container_title | American journal of medical genetics |
| container_volume | 32 |
| creator | Pai, G. S. Shapiro, Steven D. Macpherson, Roderick I. Opitz, John M. Reynolds, James F. |
| description | Short stature and multiple hyperplastic lesions with a potential for malignant degeneration are among the clinical manifestations of both neurofibromatosis I (NF I) and multiple cartilaginous exostoses (MCE). The coexistence of both NF I and MCE in a family provided an opportunity to observe the interaction of these 2 autosomal dominant mutations. Also, the segregation pattern observed in this family excluded allelism and close linkage between the 2 disorders. |
| doi_str_mv | 10.1002/ajmg.1320320132 |
| format | Article |
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S. ; Shapiro, Steven D. ; Macpherson, Roderick I. ; Opitz, John M. ; Reynolds, James F.</creator><creatorcontrib>Pai, G. S. ; Shapiro, Steven D. ; Macpherson, Roderick I. ; Opitz, John M. ; Reynolds, James F.</creatorcontrib><description>Short stature and multiple hyperplastic lesions with a potential for malignant degeneration are among the clinical manifestations of both neurofibromatosis I (NF I) and multiple cartilaginous exostoses (MCE). The coexistence of both NF I and MCE in a family provided an opportunity to observe the interaction of these 2 autosomal dominant mutations. 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Also, the segregation pattern observed in this family excluded allelism and close linkage between the 2 disorders.</description><subject>Adult</subject><subject>Alleles</subject><subject>Biological and medical sciences</subject><subject>Child</subject><subject>Exostoses, Multiple Hereditary - genetics</subject><subject>Female</subject><subject>Genes, Dominant</subject><subject>Genetic Linkage</subject><subject>Humans</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Mutation</subject><subject>Neurofibromatosis 1 - genetics</subject><subject>Neurology</subject><subject>Tumors of the nervous system. 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S.</creatorcontrib><creatorcontrib>Shapiro, Steven D.</creatorcontrib><creatorcontrib>Macpherson, Roderick I.</creatorcontrib><creatorcontrib>Opitz, John M.</creatorcontrib><creatorcontrib>Reynolds, James F.</creatorcontrib><collection>Istex</collection><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><jtitle>American journal of medical genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Pai, G. 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| identifier | ISSN: 0148-7299 |
| ispartof | American journal of medical genetics, 1989-01, Vol.32 (1), p.145-145 |
| issn | 0148-7299 1096-8628 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_15781288 |
| source | MEDLINE; Alma/SFX Local Collection |
| subjects | Adult Alleles Biological and medical sciences Child Exostoses, Multiple Hereditary - genetics Female Genes, Dominant Genetic Linkage Humans Male Medical sciences Mutation Neurofibromatosis 1 - genetics Neurology Tumors of the nervous system. Phacomatoses |
| title | Exclusion of allelism and close linkage between neurofibromatosis and multiple cartilaginous exostoses |
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