| scholarly article | Q13442814 |
| P356 | DOI | 10.3109/13816810.2012.655359 |
| P8608 | Fatcat ID | release_lbfr5z54zzfrzijs3t64d7wyq4 |
| P698 | PubMed publication ID | 22486322 |
| P2093 | author name string | Thomas M Aaberg | |
| Adam S Hassan | |||
| Zachary D Pearce | |||
| Patrick J Droste | |||
| P2860 | cites work | Genomic cloning and characterization of the human homeobox gene SIX6 reveals a cluster of SIX genes in chromosome 14 and associates SIX6 hemizygosity with bilateral anophthalmia and pituitary anomalies | Q22010621 |
| A case of deletion 14(q22.1-->q22.3) associated with anophthalmia and pituitary abnormalities | Q24514980 | ||
| Heterozygous mutations of OTX2 cause severe ocular malformations | Q24530768 | ||
| Deletion 14q (q22q23) associated with anophthalmia, absent pituitary, and other abnormalities | Q33596773 | ||
| OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype | Q34474376 | ||
| Causes of childhood blindness in the People's Republic of China: results from 1131 blind school students in 18 provinces | Q35310908 | ||
| Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways | Q36719098 | ||
| A practical guide to the management of anophthalmia and microphthalmia | Q36959894 | ||
| Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma | Q43529911 | ||
| Deletion at 14q22-23 indicates a contiguous gene syndrome comprising anophthalmia, pituitary hypoplasia, and ear anomalies. | Q52012746 | ||
| Analysis of the developmental SIX6 homeobox gene in patients with anophthalmia/microphthalmia. | Q52088526 | ||
| P433 | issue | 3 | |
| P407 | language of work or name | English | Q1860 |
| P304 | page(s) | 161-166 | |
| P577 | publication date | 2012-04-09 | |
| P1433 | published in | Ophthalmic Genetics | Q15759083 |
| P1476 | title | Ophthalmic and systemic findings in interstitial deletions of chromosome 14q: a case feport and literature review | |
| P478 | volume | 33 |
| Q38617714 | Anophthalmia, hearing loss, abnormal pituitary development and response to growth hormone therapy in three children with microdeletions of 14q22q23 |
| Q47132134 | Haploinsufficiency of BMP4 and OTX2 in the Foetus with an abnormal facial profile detected in the first trimester of pregnancy |
| Q54482859 | Haploinsufficiency of BMP4 gene may be the underlying cause of Frías syndrome. |
| Q38606774 | Prenatal diagnosis of gastric and small bowel atresia: a case series and review of the literature |
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