- Clinical characteristics of CHARGE syndrome
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Ahn BS, Oh SY
- KMID: 1043970
- Korean J Ophthalmol.
- 1998 Dec;12(2):130-134.
- doi: 10.3341/kjo.1998.12.2.130
CHARGE syndrome, first described by Pagon, was named for its six major clinical features. They are: coloboma of the eye, heart defects, atresia of the choanae, retarded growth and development... -
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- Partial Tetrasomy of Chromosome 22q11.1 Resulting from a Supernumerary Isodicentric Marker Chromosome in a Boy with Cat-eye Syndrome
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Ko JM, Kim JB, Pai KS, Yun JN, Park SJ
- KMID: 1792906
- J Korean Med Sci.
- 2010 Dec;25(12):1798-1801.
- doi: 10.3346/jkms.2010.25.12.1798
The 22q11 region has been implicated in chromosomal rearrangements that result in altered gene dosage, leading to three different congenital malformation syndromes: DiGeorge syndrome, cat-eye syndrome (CES), and der(22) syndrome.... -
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