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Shotelersuk V, Desudchit T, Suwanwela N 
Postnatal growth failure, microcephaly, mental retardation, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy. [Case Reports, Journal Article]
Am J Med Genet A 2003 Jan 15; 116(2):164-9.
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Kondoh T, Yamamoto T, Kono Y, et al. 
Condition of microcephaly, growth retardation, joint contractures, atopic dermatitis, and mental retardation in two Japanese sisters: a new autosomal recessive MCA/MR syndrome? [Case Reports, Journal Article]
Am J Med Genet 2001 Jul 22; 102(1):63-7.
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Mégarbané A, Waked N, Chouery E, et al. 
Microcephaly, cutis verticis gyrata of the scalp, retinitis pigmentosa, cataracts, sensorineural deafness, and mental retardation in two brothers. [Case Reports, Journal Article, Research Support, Non-U.S. Gov't ]
Am J Med Genet 2001 Jan 22; 98(3):244-9.
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Orrico A, Galli L, Zappella M, et al. 
Possible case of Pitt-Hopkins syndrome in sibs. [Case Reports, Journal Article]
Am J Med Genet 2001 Oct 1; 103(2):157-9.
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Faivre L, Le Merrer M, Lyonnet S, et al. 
Clinical and genetic heterogeneity of Seckel syndrome. [Journal Article]
Am J Med Genet 2002 Nov 1; 112(4):379-83.
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Graham JM, Hennekam R, Dobyns WB, et al. 
MICRO syndrome: an entity distinct from COFS syndrome. [Journal Article, Review]
Am J Med Genet A 2004 Jul 30; 128(3):235-45.
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Mégarbané A, Ruchoux MM, Loeys B, et al. 
Short stature, abnormal face, joint laxity, dislocation, hernias, delayed bone age, and severe psychomotor retardation in two brothers: previously undescribed MCA/MR syndrome. [Case Reports, Journal Article]
Am J Med Genet 2001 Dec 1; 104(3):221-4.
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Ben-Zeev B, Hoffman C, Lev D, et al. 
Progressive cerebellocerebral atrophy: a new syndrome with microcephaly, mental retardation, and spastic quadriplegia. [Journal Article, Multicenter Study]
J Med Genet 2003 Aug; 40(8):e96.
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Schorderet DF, Addor MC, Maeder P, et al. 
Two brothers with atypical syndactylies, cerebellar atrophy and severe mental retardation. [Case Reports, Journal Article]
Genet Couns 2002; 13(4):441-7.
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