Search

Your search keyword '"Carretero, Pilar"' showing total 3 results
Start Over Author "Carretero, Pilar" Journal clinical case reports
3 results on '"Carretero, Pilar"'

2. Prenatal mucopolysaccharidosis VII: A novel pathogenic variant identified in GUSB gene.

Author

Poyatos‐Andújar, Antonio Miguel, García‐Linares, Susana, Carretero, Pilar, Ocon, Olga, Fresneda, Dolores, Gort, Laura, and Molina García, Francisa Sonia

Subjects
MUCOPOLYSACCHARIDOSIS, GENES, GENETIC counseling, PRENATAL diagnosis, GENETIC testing
Abstract

Clinical exome sequencing is a powerful approach to overcome the wide clinical and genetic heterogeneity of mucopolysaccharidosis. These data could be useful for prenatal diagnosis of MPS VII, genetic counseling, and preimplantation genetic testing. [ABSTRACT FROM AUTHOR]

Published
2021
Full Text
View/download PDF

3. Prenatal mucopolysaccharidosis VII: A novel pathogenic variant identified in GUSB gene

Author

Francisa Sonia Molina García, Pilar Carretero, Dolores Fresneda, Susana García-Linares, Laura Gort, Olga Ocon, Antonio Poyatos-Andujar, [Miguel Poyatos-Andujar, Antonio] Hosp Univ San Cecilio, UGC Labs, Lab Genet, Granada, Spain, [Garcia-Linares, Susana] Hosp Univ San Cecilio, UGC Labs, Lab Genet, Granada, Spain, [Carretero, Pilar] Hosp Univ San Cecilio, Inst Invest Biosanitaria IBS, Dept Obstet & Gynecol, Granada, Spain, [Ocon, Olga] Hosp Univ San Cecilio, Inst Invest Biosanitaria IBS, Dept Obstet & Gynecol, Granada, Spain, [Fresneda, Dolores] Hosp Univ San Cecilio, Inst Invest Biosanitaria IBS, Dept Obstet & Gynecol, Granada, Spain, [Molina Garcia, Francisa Sonia] Hosp Univ San Cecilio, Inst Invest Biosanitaria IBS, Dept Obstet & Gynecol, Granada, Spain, and [Gort, Laura] CIBERER, Serv Bioquim & Genet Mol, Hosp Clin, IDIBAPS,Scccio Errors Congenits Metab IBC, Barcelona, Spain

Subjects
Genetic counseling, Mucopolysaccharidosis, Sly syndrome, lcsh:Medicine, Prenatal diagnosis, Mucopolysaccharidosis VII, Case Report, Case Reports, 030204 cardiovascular system & hematology, 03 medical and health sciences, 0302 clinical medicine, β‐glucuronidase, Diagnosis, medicine, Exome sequencing, Genetic testing, Genetics, lcsh:R5-920, prenatal diagnosis, medicine.diagnostic_test, business.industry, Genetic heterogeneity, lcsh:R, beta-glucuronidase, clinical exome sequencing, General Medicine, medicine.disease, glycosaminoglycans, 030220 oncology & carcinogenesis, business, lcsh:Medicine (General)
Abstract

Clinical exome sequencing is a powerful approach to overcome the wide clinical and genetic heterogeneity of mucopolysaccharidosis. These data could be useful for prenatal diagnosis of MPS VII, genetic counseling, and preimplantation genetic testing.

Published
2021

Catalog

Books, media, physical & digital resources
See catalog results