Extended analysis of exome sequencing data reveals a novel homozygous deletion of exons 3 and 4 in FUCA1gene causing fucosidosis in an Indian family
| Title: | Extended analysis of exome sequencing data reveals a novel homozygous deletion of exons 3 and 4 in FUCA1gene causing fucosidosis in an Indian family |
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| Authors: | do Rosario, Michelle C., Purushothama, Greeshma, Narayanan, Dhanya Lakshmi, Siddiqui, Shahyan, Girisha, Katta Mohan, Shukla, Anju |
| Source: | Clinical Dysmorphology; July 2023, Vol. 32 Issue: 3 p112-115, 4p |
| Database: | Supplemental Index |
| ISSN: | 09628827 14735717 |
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| DOI: | 10.1097/MCD.0000000000000452 |
| Published in: | Clinical Dysmorphology |
| Language: | English |