Genome rearrangements in patients with blepharophimosis, mental retardation and hypothyroidism, so-called Young-Simpson syndrome.
Brancati
F
F
Bernardini
L
L
Cavalcanti
D P
DP
Romano
C
C
Novelli
A
A
Dallapiccola
B
B
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