| scholarly article | Q13442814 |
| P6179 | Dimensions Publication ID | 1038916574 |
| P356 | DOI | 10.1097/GIM.0B013E318204CFD2 |
| P932 | PMC publication ID | 4237064 |
| P698 | PubMed publication ID | 21285886 |
| P50 | author | Lisa A Schimmenti | Q55690549 |
| Craig Jackson | Q57457651 | ||
| Adele Schneider | Q130279617 | ||
| Tanya Bardakjian | Q130279619 | ||
| P2093 | author name string | Gordana Raca | |
| Joseph T C Shieh | |||
| Berta Warman | |||
| Laimutis Kucinskas | |||
| P2860 | cites work | Uveal coloboma: clinical and basic science update | Q36576854 |
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| Unmasking of a hemizygous WFS1 gene mutation by a chromosome 4p deletion of 8.3 Mb in a patient with Wolf-Hirschhorn syndrome. | Q51901404 | ||
| A maternally inherited chromosome 18q22.1 deletion in a male with late-presenting diaphragmatic hernia and microphthalmia-evaluation of DSEL as a candidate gene for the diaphragmatic defect. | Q51911649 | ||
| Renal hypoplasia without optic coloboma associated with PAX2 gene deletion | Q61409831 | ||
| Deletions that reveal recessive genes | Q80861055 | ||
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| Renal-coloboma syndrome: a multi-system developmental disorder caused by PAX2 mutations | Q33722167 | ||
| Glypicans: proteoglycans with a surprise | Q34344168 | ||
| Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia | Q34633997 | ||
| Inherited interstitial duplications of proximal 15q: genotype-phenotype correlations | Q35250235 | ||
| National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology | Q35438112 | ||
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| Developmental eye disorders | Q36139826 | ||
| Identification of disease genes by whole genome CGH arrays | Q36294690 | ||
| Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy | Q36492215 | ||
| P433 | issue | 5 | |
| P407 | language of work or name | English | Q1860 |
| P304 | page(s) | 437-442 | |
| P577 | publication date | 2011-05-01 | |
| P1433 | published in | Genetics in Medicine | Q15765508 |
| P1476 | title | Array comparative genomic hybridization analysis in patients with anophthalmia, microphthalmia, and coloboma | |
| P478 | volume | 13 |
| Q37045101 | ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm |
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| Q39463269 | Congenital Microphthalmia, Anophthalmia and Coloboma among Live Births in Denmark |
| Q38109056 | Congenital abnormalities of the optic nerve: from gene mutation to clinical expression |
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| Q35899337 | Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies |
| Q36288559 | Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH |
| Q41905590 | Less expression of prohibitin is associated with increased paired box 2 (PAX2) in renal interstitial fibrosis rats |
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