An adult with cystathionine beta-synthase deficiency, camptodactyly-arthropathy-coxa vara-pericarditis syndrome, and deafness: A case report
Abstract Massive sequencing platforms allow the identification of complex clinical phenotypes involving more than one autosomal recessive disorder. In this study, we report on an adult patient, born to a related couple (third degree cousins), referred for genetic evaluation due to ectopia lentis, de...
| Главные авторы: | , , , , , , , , , |
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| Формат: | Статья |
| Язык: | English |
| Опубликовано: |
Sociedade Brasileira de Genética
2024-04-01
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| Серии: | Genetics and Molecular Biology |
| Предметы: | |
| Online-ссылка: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572024000100105&lng=en&tlng=en |