Overview
Gene (OMIM No.) |
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Function of gene/protein |
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Clinical phenotype (OMIM phenotype no.) |
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Inheritance |
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Ocular features | |
Systemic features | Main features:
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Key investigations |
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Molecular diagnosis | Next generation sequencing
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Management | OcularSystemic
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Therapies under research |
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Further information |
References
- Chitayat, D., Sroka, H., Keating, S., Colby, R. S., Ryan, G., Toi, A., Blaser, S., Viero, S., Devisme, L., Boute-Benejean, O., Manouvrier-Hanu, S., Mortier, G., Loeys, B., Rauch, A., Bitoun, P. The PDAC syndrome (pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, anophthalmia/microphthalmia, and cardiac defect) (Spear syndrome, Matthew-Wood syndrome): report of eight cases including a living child and further evidence for autosomal recessive inheritance. Am. J. Med. Genet. 2007;143A: 1268-1281
- Hauksdottir H., Farboud B., Privalsky M.L. Retinoic acid receptors beta and gamma do not repress, but instead activate target gene transcription in both the absence and presence of hormone ligand. Mol. Endocrinol. 2003;17: 373-385
- Srour M, Chitayat D, Caron V, et al. Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia [published correction appears in Am J Hum Genet. 2013 Nov 7;93(5):994]. Am J Hum Genet. 2013;93(4):765‐772