Literature DB >> 1345514

Thanatophoric dysplasia of the straight-bone type (type 2).

A M Norman1, S Rimmer, S Landy, D Donnai.   

Abstract

We describe two cases of type 2 thanatophoric dysplasia. Cloverleaf skull and relatively straight, shortened long bones distinguish this condition from the more common type 1 thanatophoric dysplasia.

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Mesh：

Year:  1992        PMID： 1345514

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN： 0962-8827            Impact factor:   0.816


  4 in total

Review 1.  FGFR3-related dwarfism and cell signaling.

Authors:  Daisuke Harada; Yoshitaka Yamanaka; Koso Ueda; Hiroyuki Tanaka; Yoshiki Seino
Journal:  J Bone Miner Metab       Date:  2008-12-09       Impact factor: 2.626

2.  A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene.

Authors:  P L Tavormina; G A Bellus; M K Webster; M J Bamshad; A E Fraley; I McIntosh; J Szabo; W Jiang; E W Jabs; W R Wilcox; J J Wasmuth; D J Donoghue; L M Thompson; C A Francomano
Journal:  Am J Hum Genet       Date:  1999-03       Impact factor: 11.025

Review 3.  Achondroplasia: a comprehensive clinical review.

Authors:  Richard M Pauli
Journal:  Orphanet J Rare Dis       Date:  2019-01-03       Impact factor: 4.123

4.  A case of thanatophoric dysplasia type 2: a novel mutation.

Authors:  Selvi Gülaşı; Aytuğ Atıcı; Yalçın Çelik
Journal:  J Clin Res Pediatr Endocrinol       Date:  2015-03
  4 in total

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