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A mild form of Stickler syndrome type II caused by mosaicism of COL11A1
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7p22.1 microdeletions involving ACTB associated with developmental delay, short stature, and microcephaly
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Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end of FBN1 gene
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Exome sequencing identifies ZFPM2 as a cause of familial isolated congenital diaphragmatic hernia and possibly cardiovascular malformations
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Co-occurrence of congenital hydronephrosis and FOXL2-associated blepharophimosis, ptosis, epicanthus inversus syndrome (BPES)
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Implementation of genomic arrays in prenatal diagnosis: the Belgian approach to meet the challenges
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Unusual 8p inverted duplication deletion with telomere capture from 8q
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The 12q14 microdeletion syndrome: additional patients and further evidence that HMGA2 is an important genetic determinant for human height
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Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome
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Challenges for CNV interpretation in clinical molecular karyotyping: lessons learned from a 1001 sample experience