Full text
PDF
Images in this article
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Biesecker L. G. The Ohdo blepharophimosis syndrome: a third case. J Med Genet. 1991 Feb;28(2):131–134. doi: 10.1136/jmg.28.2.131. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Buntinx I., Majewski F. Blepharophimosis, iris coloboma, microgenia, hearing loss, postaxial polydactyly, aplasia of corpus callosum, hydroureter, and developmental delay. Am J Med Genet. 1990 Jul;36(3):273–274. doi: 10.1002/ajmg.1320360304. [DOI] [PubMed] [Google Scholar]
- Cavalcanti D. P. Unknown syndrome: abnormal facies, hypothyroidism, postaxial polydactyly, and severe retardation: a third patient. J Med Genet. 1989 Dec;26(12):785–786. doi: 10.1136/jmg.26.12.785. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Clayton-Smith J., Krajewska-Walasek M., Fryer A., Donnai D. Ohdo-like blepharophimosis syndrome with distinctive facies, neonatal hypotonia, mental retardation and hypoplastic teeth. Clin Dysmorphol. 1994 Apr;3(2):115–120. [PubMed] [Google Scholar]
- Fryns J. P., Moerman P. Unknown syndrome: abnormal facies, hypothyroidism, and severe retardation: a second patient. J Med Genet. 1988 Jul;25(7):498–499. doi: 10.1136/jmg.25.7.498. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Fujita H., Meng J., Kawamura M., Tozuka N., Ishii F., Tanaka N. Boy with a chromosome del (3)(q12q23) and blepharophimosis syndrome. Am J Med Genet. 1992 Nov 1;44(4):434–436. doi: 10.1002/ajmg.1320440409. [DOI] [PubMed] [Google Scholar]
- Maat-Kievit J. A., Milla P. J., Collins J. E., Baraitser M., Winter R. M. A case with blepharophimosis resembling Ohdo syndrome. Clin Dysmorphol. 1994 Apr;3(2):125–127. [PubMed] [Google Scholar]
- Melnyk A. R. Blepharophimosis, ptosis and mental retardation: further delineation of Ohdo syndrome. Clin Dysmorphol. 1994 Apr;3(2):121–124. [PubMed] [Google Scholar]
- Nienhaus H., Mau U., Zang K. D. Infant with del(3) (p25-pter): karyotype-phenotype correlation and review of previously reported cases. Am J Med Genet. 1992 Nov 15;44(5):573–575. doi: 10.1002/ajmg.1320440508. [DOI] [PubMed] [Google Scholar]
- Phipps M. E., Latif F., Prowse A., Payne S. J., Dietz-Band J., Leversha M., Affara N. A., Moore A. T., Tolmie J., Schinzel A. Molecular genetic analysis of the 3p- syndrome. Hum Mol Genet. 1994 Jun;3(6):903–908. doi: 10.1093/hmg/3.6.903. [DOI] [PubMed] [Google Scholar]
- de Die-Smulders C. E., Engelen J. J., Donk J. M., Fryns J. P. Further evidence for the location of the BPES gene at 3q2. J Med Genet. 1991 Oct;28(10):725–725. doi: 10.1136/jmg.28.10.725. [DOI] [PMC free article] [PubMed] [Google Scholar]