Autosomal recessive progeroid syndrome due to homozygosity for a TOMM7 variant
Autosomal recessive progeroid syndrome due to homozygosity for a TOMM7 variant
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Publisher
United States: American Society for Clinical Investigation
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Language
English
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Publisher
United States: American Society for Clinical Investigation
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Multiple genetic loci have been reported for progeroid syndromes. However, the molecular defects in some extremely rare forms of progeria have yet to be elucidated. Here, we report a 21-year-old man of Chinese ancestry who has an autosomal recessive form of progeria, characterized by severe dwarfism, mandibular hypoplasia, hyperopia, and partial li...
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Full title
Autosomal recessive progeroid syndrome due to homozygosity for a TOMM7 variant
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TN_cdi_doaj_primary_oai_doaj_org_article_486f4ee4357c45cca2ea1e35adcccde2
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_486f4ee4357c45cca2ea1e35adcccde2
Other Identifiers
ISSN
1558-8238,0021-9738
E-ISSN
1558-8238
DOI
10.1172/JCI156864
