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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Autori principali: Pozo Palacios, Juan Carlos, Llamos Paneque, Arianne, Rivas, Christian, Onofre, Emily, Lopez Caceres, Andrea Del pilar, Villareal, Jennifer
Natura: ARTÍCULO
Lingua:es_ES
Pubblicazione: 2022
Soggetti:
Dynamic mutation diseases
FMR1
Fragile X syndrome
Intellectual disabilities
Repetitions
Accesso online: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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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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