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MASA syndrome: new clinical features and linkage analysis using DNA probes.
We describe a two generation family in which two males have the X linked recessive MASA syndrome (mental retardation, aphasia, shuffling gait, and adducted thumbs). A third male in this family died at the age of 15 years from congenital hydrocephalus. In the present family cerebral abnormalities are...
Gorde:
| Argitaratua izan da: | J Med Genet |
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| Egile Nagusiak: | , , , |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
BMJ Publishing Group
1990
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| Gaiak: | |
| Sarrera elektronikoa: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1017259/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/2277384/ https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.27.11.688 |
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