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Functional disomy of proximal Xp causes a distinct phenotype comprising early hypotonia, hypertelorism, small hands and feet, ear abnormalities, myopia and cognitive impairment. [JOURNAL ARTICLE]
Am J Med Genet A 2009 Jul 16.
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Ocular manifestations in Wolf-Hirschhorn syndrome. [Journal Article]
J AAPOS 2009 Jun; 13(3):264-7.
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47 XYY and morning glory syndrome-A unique association. [JOURNAL ARTICLE]
J AAPOS 2009 May 30.
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| Türköver BB, Sayar C, Toksoy G, et al.
A report of a patient with duplication of 7p13-->pter and deletion of 2p23-->pter due to a maternal 2p;7p translocation. [Journal Article]
Turk J Pediatr 2009 Mar-Apr; 51(2):174-9.
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| Rankin JS, Braverman AC, Kouchoukos NT
Total aortic replacement in Loeys-Dietz syndrome. [Case Reports, Journal Article]
Ann Thorac Surg 2009 Jun; 87(6):1949-51.
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| Habal MB
Surgical correction of orbital hypertelorism: a surgical evolution through time. [Editorial]
J Craniofac Surg 2009 May; 20(3):715-7.
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| Fleming KF, Wu JJ, Dyson SW, et al.
Denuded congenital lesions: recessive dystrophic epidermolysis bullosa. [Journal Article]
Dermatol Online J 2009; 15(4):4.
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| Lamazza L, Messina A, D'Ambrosio F, et al.
Craniometaphyseal dysplasia: a case report. [Journal Article]
Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2009 May; 107(5):e23-7.
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| Caça I, Caça FN, Sakalar YB, et al.
Apert's syndrome: ophthalmic importance and clinical findings. [Journal Article]
Ann Ophthalmol (Skokie) 2009; 41(1):44-6.
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| Koçak H, Ceylaner G
Frontonasal dysplasia: a family presenting autosomal dominant inheritance pattern. [Journal Article]
Genet Couns 2009; 20(1):63-8.
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