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

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

5 Citations (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 - 01-07-2023

All Science Journal Classification (ASJC) codes

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

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10.1097/MCD.0000000000000452

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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",

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). ",

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doi = "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

TY - JOUR

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

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DO - 10.1097/MCD.0000000000000452

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AN - SCOPUS:85160966192

SN - 0962-8827

VL - 32

SP - 112

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JF - Clinical Dysmorphology

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

All Science Journal Classification (ASJC) codes

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