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46. Distinct, autosomal recessive form of spondyloepimetaphyseal dysplasia segregating in an inbred Pakistani kindred. Ahmad M; Faiyaz Ul Haque M; Ahmad W; Abbas H; Haque S; Krakow D; Rimoin DL; Lachman RS; Cohn DH Am J Med Genet; 1998 Aug; 78(5):468-73. PubMed ID: 9714015 [TBL] [Abstract][Full Text] [Related]
47. Larsen syndrome. Extraosseous uptake of bone imaging agent. Sty JR; Gregg DC; Lundeen BE Clin Nucl Med; 1996 Aug; 21(8):649-50. PubMed ID: 8853923 [No Abstract] [Full Text] [Related]
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53. Persistent upper airway obstruction is a diagnostic feature of spondyloepimetaphyseal dysplasia with multiple dislocations (Hall type) with further evidence for dominant inheritance. Park SM; Hall CM; Gray R; Firth HV Am J Med Genet A; 2007 Sep; 143A(17):2024-8. PubMed ID: 17676604 [TBL] [Abstract][Full Text] [Related]
54. Severe neurologic manifestations from cervical spine instability in spondylo-megaepiphyseal-metaphyseal dysplasia. Simon M; Campos-Xavier AB; Mittaz-Crettol L; Valadares ER; Carvalho D; Speck-Martins CE; Nampoothiri S; Alanay Y; Mihci E; van Bever Y; Garcia-Segarra N; Cavalcanti D; Mortier G; Bonafé L; Superti-Furga A Am J Med Genet C Semin Med Genet; 2012 Aug; 160C(3):230-7. PubMed ID: 22791571 [TBL] [Abstract][Full Text] [Related]
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