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Oculo-palatal-cerebral syndrome: a second case.
Pellegrino JE, Engel JM, Chavez D, Day-Salvatore D. Pellegrino JE, et al. Am J Med Genet. 2001 Mar 15;99(3):200-3. doi: 10.1002/1096-8628(2001)9999:9999<::aid-ajmg1152>3.0.co;2-6. Am J Med Genet. 2001. PMID: 11241490 Review.
Our patient, a 2-year-old boy, had growth delay, microcephaly, bilateral persistent hyperplastic primary vitreous with right microphthalmia, long ears with thickened helices, small hands and feet, highly arched palate, joint hypermobility, hypoplastic nails, frontal …
Our patient, a 2-year-old boy, had growth delay, microcephaly, bilateral persistent hyperplastic primary vitreous with right microphthalmia, …
The ATP-binding cassette transporter ABCA4: structural and functional properties and role in retinal disease.
Tsybovsky Y, Molday RS, Palczewski K. Tsybovsky Y, et al. Adv Exp Med Biol. 2010;703:105-25. doi: 10.1007/978-1-4419-5635-4_8. Adv Exp Med Biol. 2010. PMID: 20711710 Free PMC article. Review.
It is composed of two symmetrically organized halves, each comprising six membrane-spanning helices, a large glycosylated exocytoplasmic domain located inside the disk, and a cytoplasmic domain with an ATP-binding cassette. ...
It is composed of two symmetrically organized halves, each comprising six membrane-spanning helices, a large glycosylated exocytoplas …