Undescribed GJB2 c.35dupG homozygous prelingual distinguished from c.35delG homozygous/compound heterozygous deafs, dwelling a German ancestry Venezuelan isolate
Abstract Background Among ten hearing-impaired (HI) families mostly of German descent dwelling the Venezuelan isolate Colonia Tovar, which were initially studied several decades ago to assess the etiology of their profound/prelingual nonsyndromic deafness phenotype, an undescribed genotype/phenotype...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
SpringerOpen
2021-05-01
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| Series: | Egyptian Journal of Medical Human Genetics |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s43042-021-00159-8 |