Gene: [14q2/CRG] CHARGE association (coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies);
|
COM |
North-1995 described a 4.5-year-old girl with CHARGE association who had a de novo inverted duplication (14)(q22-q24)." |
|
REF |
ABR,LOC "North KN &: Am J Med Genet, 57, N4, 610-614, 1995 |
|
CLA |
unknown, basic |
|
LOC |
14 q22-24 |
|
MIM |
MIM: 214800 |
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