Clinical features of boys with fragile X premutations and intermediate alleles

Fragile X syndrome has a characteristic behavioural and physical phenotype. Clinical experience and case reports suggest that boys with premutations and intermediate alleles may have similar, but possibly milder, clinical features than those with the full mutation. We conducted detailed physical, ps...

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Veröffentlicht in:	American journal of medical genetics. Part B, Neuropsychiatric genetics Neuropsychiatric genetics, 2003-08, Vol.121B (1), p.119-127
Hauptverfasser:	Aziz, Monica, Stathopulu, Eleni, Callias, Maria, Taylor, Catherine, Turk, Jeremy, Oostra, Ben, Willemsen, Rob, Patton, Mike
Format:	Artikel
Sprache:	eng
Schlagworte:	Autistic Disorder - genetics Autistic Disorder - physiopathology behavioural phenotype child dysmorphology FMR-protein fragile X intermediate allele Fragile X Mental Retardation Protein fragile X premutation Fragile X Syndrome - genetics Fragile X Syndrome - physiopathology Humans Language Development Disorders - genetics Language Development Disorders - physiopathology Male Nerve Tissue Proteins - genetics RNA-Binding Proteins Trinucleotide Repeat Expansion
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