about
Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disabilityHomozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentationMutations in the polyglutamine binding protein 1 gene cause X-linked mental retardationDisruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndromeGermline KRAS mutations cause Noonan syndromeHomozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problemsMutations of the aminoacyl-tRNA-synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disabilityA balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation.
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description
onderzoeker
@nl
name
Luciana Musante
@ast
Luciana Musante
@en
Luciana Musante
@es
Luciana Musante
@sl
type
label
Luciana Musante
@ast
Luciana Musante
@en
Luciana Musante
@es
Luciana Musante
@sl
prefLabel
Luciana Musante
@ast
Luciana Musante
@en
Luciana Musante
@es
Luciana Musante
@sl