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

Michelle C. Do Rosario; Greeshma Purushothama; Dhanya Lakshmi Narayanan; Shahyan Siddiqui; Katta Mohan Girisha; Anju Shukla

doi:10.1097/mcd.0000000000000452

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

Michelle C. Do Rosario, Greeshma Purushothama, Dhanya Lakshmi Narayanan, Shahyan Siddiqui, Katta Mohan Girisha, Anju Shukla^*

^*Corresponding author for this work

Genetics

Research output: Contribution to journal › Article › peer-review

1 Citation (Scopus)

Original language	English
Pages (from-to)	112-115
Number of pages	4
Journal	Clinical Dysmorphology
Volume	32
Issue number	3
DOIs	https://doi.org/10.1097/mcd.0000000000000452
Publication status	Published - Jul 1 2023

Keywords

Humans
Fucosidosis/genetics
Homozygote
Exome Sequencing
Sequence Deletion/genetics
Exons/genetics
alpha-L-Fucosidase/genetics

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Anatomy
Pathology and Forensic Medicine
Genetics(clinical)

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10.1097/mcd.0000000000000452

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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.; Purushothama, Greeshma; Narayanan, Dhanya Lakshmi et al.
In: Clinical Dysmorphology, Vol. 32, No. 3, 01.07.2023, p. 112-115.

Research output: Contribution to journal › Article › peer-review

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title = "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",

keywords = "Humans, Fucosidosis/genetics, Homozygote, Exome Sequencing, Sequence Deletion/genetics, Exons/genetics, alpha-L-Fucosidase/genetics",

author = "{Do Rosario}, {Michelle C.} and Greeshma Purushothama and Narayanan, {Dhanya Lakshmi} and Shahyan Siddiqui and Girisha, {Katta Mohan} and Anju Shukla",

note = "Funding Information: The National Institutes of Health, United States of America funded the project titled {\textquoteleft}Genetic Diagnosis of Neurodevelopmental Disorders in India{\textquoteright} (Grant ID: 1R01HD093570-01A1). ",

year = "2023",

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doi = "10.1097/mcd.0000000000000452",

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T1 - 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

AU - Do Rosario, Michelle C.

AU - Purushothama, Greeshma

AU - Narayanan, Dhanya Lakshmi

AU - Siddiqui, Shahyan

AU - Girisha, Katta Mohan

AU - Shukla, Anju

N1 - Funding Information: The National Institutes of Health, United States of America funded the project titled ‘Genetic Diagnosis of Neurodevelopmental Disorders in India’ (Grant ID: 1R01HD093570-01A1).

PY - 2023/7/1

Y1 - 2023/7/1

KW - Humans

KW - Fucosidosis/genetics

KW - Homozygote

KW - Exome Sequencing

KW - Sequence Deletion/genetics

KW - Exons/genetics

KW - alpha-L-Fucosidase/genetics

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IS - 3

ER -

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

Keywords

ASJC Scopus subject areas

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