title: Genome rearrangements in patients with blepharophimosis, mental retardation and hypothyroidism, so-called Young-Simpson syndrome.
authors: F
authors: F
authors: Brancati
authors: L
authors: L
authors: Bernardini
authors: D P
authors: DP
authors: Cavalcanti
authors: C
authors: C
authors: Romano
authors: A
authors: A
authors: Novelli
authors: B
authors: B
authors: Dallapiccola
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D016569:Blepharophimosis / Q000150:complications* / Q000235:genetics; D002675:Child, Preschool; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics; D005260:Female; D015321:Gene Rearrangement / Q000235:genetics*; D015894:Genome, Human / Q000235:genetics*; D006801:Humans; D007037:Hypothyroidism / Q000150:complications* / Q000235:genetics; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000150:complications* / Q000235:genetics; D007621:Karyotyping; D008297:Male; D013577:Syndrome