Experiences of the molecular diagnosis of fragile X syndrome in Ecuador

Experiences of the molecular diagnosis of fragile X syndrome in Ecuador

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Fragile X syndrome (FXS) is the most common cause of hereditary intellectual disability and the second most common cause of intellectual disability of genetic etiology. This complex neurodevelopmental disorder is caused by an alteration in the CGG trinucleotide expansion in fragile X mental retardat...

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Main Authors: Lopez Caceres, Andrea Del pilar, Pozo Palacios, Juan Carlos, Llamos Paneque, Arianne, Rivas, Christian, Onofre, Emily, Villareal, Jennifer
格式: ARTÍCULO
语言:es_ES
出版: 2022
主题:
Repetitions
Dynamic mutation diseases
FMR1
Fragile X syndrome
Intellectual disabilities
在线阅读:http://dspace.ucuenca.edu.ec/handle/123456789/37996
https://www.scopus.com/record/display.uri?eid=2-s2.0-85121809131&origin=resultslist&sort=plf-f&src=s&st1=Experiences+of+the+Molecular+Diagnosis+of+Fragile+X+Syndrome+in+Ecuador&sid=9c81de9cf244c46ca8aa3c7d76c0e1d4&sot=b&sdt=b&sl=86&s=TITLE-ABS-KEY%28Experiences+of+the+Molecular+Diagnosis+of+Fragile+X+Syndrome+in+Ecuador%29&relpos=0&citeCnt=0&searchTerm=

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http://dspace.ucuenca.edu.ec/handle/123456789/37996
https://www.scopus.com/record/display.uri?eid=2-s2.0-85121809131&origin=resultslist&sort=plf-f&src=s&st1=Experiences+of+the+Molecular+Diagnosis+of+Fragile+X+Syndrome+in+Ecuador&sid=9c81de9cf244c46ca8aa3c7d76c0e1d4&sot=b&sdt=b&sl=86&s=TITLE-ABS-KEY%28Experiences+of+the+Molecular+Diagnosis+of+Fragile+X+Syndrome+in+Ecuador%29&relpos=0&citeCnt=0&searchTerm=

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