Extended analysis of exome sequencing data reveals a novel homozygous deletion of exons 3 and 4 in FUCA1 gene causing fucosidosis in an Indian family : Clinical Dysmorphology

Journal Logo

Short Case Reports

Extended analysis of exome sequencing data reveals a novel homozygous deletion of exons 3 and 4 in FUCA1 gene causing fucosidosis in an Indian family

do Rosario, Michelle C.a; Purushothama, Greeshmaa; Narayanan, Dhanya Lakshmia,b; Siddiqui, Shahyanc; Girisha, Katta Mohana; Shukla, Anjua

Author Information
Clinical Dysmorphology 32(3):p 112-115, July 2023. | DOI: 10.1097/MCD.0000000000000452
Copyright © 2023 Wolters Kluwer Health, Inc. All rights reserved.

You can read the full text of this article if you:

Access through Ovid