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7. A distinctive autosomal recessive syndrome of severe disproportionate short stature with short long bones, brachydactyly, and hypotrichosis in two consanguineous Arab families. Shalev SA, Spiegel R, Borochowitz ZU. Eur J Med Genet; 2012 Apr; 55(4):256-64. PubMed ID: 22440536 [Abstract] [Full Text] [Related]
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11. Two brothers with distal arthrogryposis, peculiar facial appearance, cleft palate, short stature, hydronephrosis, retentio testis, and normal intelligence: a new type of distal arthrogryposis? Sonoda T, Kouno K. Am J Med Genet; 2000 Apr 10; 91(4):280-5. PubMed ID: 10766984 [Abstract] [Full Text] [Related]
13. Arterial hypertension with brachydactyly in a 15-year-old boy. Litwin M, Jurkiewicz E, Nowak K, Kościesza A, Grenda R, Malczyk K, Kościesza I. Pediatr Nephrol; 2003 Aug 10; 18(8):814-9. PubMed ID: 12811651 [Abstract] [Full Text] [Related]
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17. Auxology is a valuable instrument for the clinical diagnosis of SHOX haploinsufficiency in school-age children with unexplained short stature. Binder G, Ranke MB, Martin DD. J Clin Endocrinol Metab; 2003 Oct 24; 88(10):4891-6. PubMed ID: 14557470 [Abstract] [Full Text] [Related]
18. [47,XYY syndrome. Is diagnosis of significance?]. Kittang OB, Vesterhus P. Tidsskr Nor Laegeforen; 1998 Apr 20; 118(10):1563-4. PubMed ID: 9615584 [Abstract] [Full Text] [Related]
19. Tibial hemimelia: report on 37 new cases, clinical and genetic considerations. Richieri-Costa A, Ferrareto I, Masiero D, da Silva CR. Am J Med Genet; 1987 Aug 20; 27(4):867-84. PubMed ID: 3425598 [Abstract] [Full Text] [Related]
20. Short stature, microcephaly, characteristic face, syndactyly and mental retardation: the Filippi syndrome. Report on a second family. Meinecke P. Genet Couns; 1993 Aug 20; 4(2):147-51. PubMed ID: 8395190 [Abstract] [Full Text] [Related] Page: [Next] [New Search]