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6. Metatropic dysplasia in third trimester of pregnancy and a novel causative variant in the TRPV4 gene. Bargiacchi S; Della Monica M; Biagiotti R; Andreucci E; Ciabattoni S; Poggi P; Di Maurizio M; Defilippi C; Cariati E; Giglio S Eur J Med Genet; 2017 Jul; 60(7):365-368. PubMed ID: 28414187 [TBL] [Abstract][Full Text] [Related]
12. Campomelic dysplasia: case report and review. Gimovsky M; Rosa E; Tolbert T; Guzman G; Nazir M; Koscica K J Perinatol; 2008 Jan; 28(1):71-3. PubMed ID: 18165831 [TBL] [Abstract][Full Text] [Related]
14. An unknown spondylo-meta-epiphyseal dysplasia in sibs with extreme short stature. Menger H; Mundlos S; Becker K; Spranger J; Zabel B Am J Med Genet; 1996 May; 63(1):80-3. PubMed ID: 8723091 [TBL] [Abstract][Full Text] [Related]
15. Desbuquois syndrome presenting with severe neonatal dwarfism, spondylo-epiphyseal dysplasia and advanced carpal bone age. Jéquier S; Perreault G; Maroteaux P Pediatr Radiol; 1992; 22(6):440-2. PubMed ID: 1437369 [No Abstract] [Full Text] [Related]
16. Hydrops-ectopic calcification-moth-eaten skeletal dysplasia (Greenberg dysplasia): prenatal diagnosis and further delineation of a rare genetic disorder. Chitayat D; Gruber H; Mullen BJ; Pauzner D; Costa T; Lachman R; Rimoin DL Am J Med Genet; 1993 Aug; 47(2):272-7. PubMed ID: 8213919 [TBL] [Abstract][Full Text] [Related]
17. Early prenatal diagnosis of polycystic pancreas with narrow thorax and short limb dwarfism. Bronstein M; Reichler A; Borochowitz Z; Bejar J; Drugan A Am J Med Genet; 1994 Jan; 49(1):6-9. PubMed ID: 8172252 [TBL] [Abstract][Full Text] [Related]
18. [Prenatal diagnosis of camptomelic dysplasia]. Redon JY; Le Grevellec JY; Marie F; Le Coq E; Le Guern H J Gynecol Obstet Biol Reprod (Paris); 1984; 13(4):437-41. PubMed ID: 6384351 [TBL] [Abstract][Full Text] [Related]
19. The prenatal sonographic features of Kniest syndrome. Bromley B; Miller W; Foster SC; Benacerraf BR J Ultrasound Med; 1991 Dec; 10(12):705-7. PubMed ID: 1766045 [No Abstract] [Full Text] [Related]
20. [Prenatal diagnosis of thanatophoric dysplasia at the 20th week of pregnancy using ultrasonography]. Todros T; Sciarrone A; Voglino G; Botta G; Camera G Pathologica; 1995 Dec; 87(6):723-5. PubMed ID: 8927442 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]