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; Siddiqui, Shahyan; Girisha, Katta Mohan; Shukla, Anju

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

Afiliación

do Rosario MC; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, Karnataka.
Purushothama G; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, Karnataka.
Narayanan DL; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, Karnataka.
Siddiqui S; DBT, Wellcome Trust India Alliance, Early Career Clinical and Public Health Research Fellowship.
Girisha KM; Department of Neuroimaging and Interventional Radiology, STAR Institute of Neurosciences, STAR Hospitals, Hyderabad, India.
Shukla A; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, Karnataka.

Clin Dysmorphol ; 32(3): 112-115, 2023 07 01.

Article en En | MEDLINE | ID: mdl-36876340

Asunto(s)

Fucosidosis; Humanos; Fucosidosis/genética; Homocigoto; Secuenciación del Exoma; Eliminación de Secuencia/genética; Exones/genética; alfa-L-Fucosidasa/genética

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fucosidosis Límite: Humans Idioma: En Revista: Clin Dysmorphol Asunto de la revista: TERATOLOGIA Año: 2023 Tipo del documento: Article Pais de publicación: Reino Unido

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