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2. Thanatophoric dysplasia and cloverleaf skull. Langer LO; Yang SS; Hall JG; Sommer A; Kottamasu SR; Golabi M; Krassikoff N Am J Med Genet Suppl; 1987; 3():167-79. PubMed ID: 3130852 [TBL] [Abstract][Full Text] [Related]
3. Thanatophoric dysplasia type II: new entity? Weber M; Johannissón R; Carstens C; Pauschert R; Niethard FU J Pediatr Orthop B; 1998 Jan; 7(1):10-22. PubMed ID: 9481651 [TBL] [Abstract][Full Text] [Related]
4. Neuropathologic findings in thanatophoric dysplasia. Ho KL; Chang CH; Yang SS; Chason JL Acta Neuropathol; 1984; 63(3):218-28. PubMed ID: 6464678 [TBL] [Abstract][Full Text] [Related]
5. A case of thanatophoric dysplasia type 2: a novel mutation. Gülaşı S; Atıcı A; Çelik Y J Clin Res Pediatr Endocrinol; 2015 Mar; 7(1):73-6. PubMed ID: 25800480 [TBL] [Abstract][Full Text] [Related]
6. Autopsy case of thanatophoric dysplasia: observations on the serial sections of the brain. Yamaguchi K; Honma K Neuropathology; 2001 Sep; 21(3):222-8. PubMed ID: 11666020 [TBL] [Abstract][Full Text] [Related]
7. [Cloverleaf skull deformity with thanatophoric dysplasia in the 24th week of pregnancy]. Habeck JO; Müller D Anat Anz; 1986; 161(1):27-34. PubMed ID: 3085547 [TBL] [Abstract][Full Text] [Related]
8. [Description of a case of thanatophoric dysplasia with cloverleaf skull]. Ronconi GF; Pesenti P; Mercurella A; Sassolino S Pediatr Med Chir; 1986; 8(3):423-5. PubMed ID: 3786207 [TBL] [Abstract][Full Text] [Related]
9. Thanatophoric dysplasia type 1 with cloverleaf skull in a dichorionic twin. Salinas-Torres VM Genet Couns; 2015; 26(1):61-5. PubMed ID: 26043509 [TBL] [Abstract][Full Text] [Related]
11. Dysmorphic choroid plexuses and hydrocephalus associated with increased nuchal translucency: early ultrasound markers of de novo thanatophoric dysplasia type II with cloverleaf skull (Kleeblattschaedel). Tonni G; Palmisano M; Ginocchi V; Ventura A; Baldi M; Baffico AM Congenit Anom (Kyoto); 2014 Nov; 54(4):228-32. PubMed ID: 24517215 [TBL] [Abstract][Full Text] [Related]
12. Thanatophoric dysplasia type I. Chang TK; Wang Y; Liu AM; Tung JC Acta Paediatr Taiwan; 2001; 42(1):39-41. PubMed ID: 11270184 [TBL] [Abstract][Full Text] [Related]
13. Genetically confirmed thanatophoric dysplasia with fibroblast growth factor receptor 3 mutation. Jung M; Park SH Exp Mol Pathol; 2017 Apr; 102(2):290-295. PubMed ID: 28249712 [TBL] [Abstract][Full Text] [Related]
14. Thanatophoric dysplasia in monozygotic twins discordant for cloverleaf skull: prenatal diagnosis, clinical and pathological findings. Corsello G; Maresi E; Rossi C; Giuffrè L; Cittadini E Am J Med Genet; 1992 Jan; 42(1):122-6. PubMed ID: 1308351 [TBL] [Abstract][Full Text] [Related]
15. Some variants of lethal neonatal short-limbed platyspondylic dysplasia: a radiological ultrasonographic, neuropathological and histopathological study of 22 cases. van der Harten HJ; Brons JT; Dijkstra PF; Barth PG; Niermeyer MF; Meijer CJ; van Geijn HP; Arts NF Clin Dysmorphol; 1993 Jan; 2(1):1-19. PubMed ID: 8298733 [TBL] [Abstract][Full Text] [Related]
16. Neuropathological and Golgi study on a case of thanatophotoric dysplasia. Shigematsu H; Takashima S; Otani K; Ieshima A Brain Dev; 1985; 7(6):628-32. PubMed ID: 3832954 [TBL] [Abstract][Full Text] [Related]
17. Brain malformation with loss of normal FGFR3 expression in thanatophoric dysplasia type I. Itoh K; Pooh R; Kanemura Y; Yamasaki M; Fushiki S Neuropathology; 2013 Dec; 33(6):663-6. PubMed ID: 23551494 [TBL] [Abstract][Full Text] [Related]
18. Prenatal diagnosis and genetic analysis of type I and type II thanatophoric dysplasia. Chen CP; Chern SR; Shih JC; Wang W; Yeh LF; Chang TY; Tzen CY Prenat Diagn; 2001 Feb; 21(2):89-95. PubMed ID: 11241532 [TBL] [Abstract][Full Text] [Related]
19. Thanatophoric dysplasia type II with encephalocele and semilobar holoprosencephaly: Insights into its pathogenesis. Martínez-Frías ML; Egüés X; Puras A; Hualde J; de Frutos CA; Bermejo E; Nieto MA; Martínez S Am J Med Genet A; 2011 Jan; 155A(1):197-202. PubMed ID: 21204232 [TBL] [Abstract][Full Text] [Related]
20. Prenatal diagnosis of hydrancephaly and enlarged cerebellum and cisterna magna in a fetus with thanatophoric dysplasia type II and a review of prenatal diagnosis of brain anomalies associated with thanatophoric dysplasia. Chen CP; Chang TY; Lin TW; Chern SR; Chen SW; Lai ST; Chuang TY; Wang W Taiwan J Obstet Gynecol; 2018 Feb; 57(1):119-122. PubMed ID: 29458880 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]