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From tall to short: the role of TGFβ signaling in growth and its disorders.
Le Goff C, Cormier-Daire V. Le Goff C, et al. Am J Med Genet C Semin Med Genet. 2012 Aug 15;160C(3):145-53. doi: 10.1002/ajmg.c.31337. Epub 2012 Jul 12. Am J Med Genet C Semin Med Genet. 2012. PMID: 22791552 Review.
Four disorders can now be ascribed to this group, namely Weill-Marchesani syndrome (WMS), geleophysic dysplasia (GD), acromicric dysplasia (AD), and Myhre syndrome (MS). ...Functional SMAD4 is required for canonical signal transduction through the olig …
Four disorders can now be ascribed to this group, namely Weill-Marchesani syndrome (WMS), geleophysic dysplasia (GD), acrom
Genetic and molecular aspects of acromelic dysplasia.
Le Goff C, Cormier-Daire V. Le Goff C, et al. Pediatr Endocrinol Rev. 2009 Mar;6(3):418-23. Pediatr Endocrinol Rev. 2009. PMID: 19396027 Review.
The acromelic dysplasia group includes three rare disorders: Weill-Marchesani syndrome (WMS), Geleophysic dysplasia (GD) and Acromicric dysplasia (AD) all characterized by short stature, short hands and stiff joints. ...
The acromelic dysplasia group includes three rare disorders: Weill-Marchesani syndrome (WMS), Geleophysic dysplasia (GD) and …
Natural history of cardiac involvement in geleophysic dysplasia.
Scott A, Yeung S, Dickinson DF, Karbani G, Crow YJ. Scott A, et al. Am J Med Genet A. 2005 Jan 30;132A(3):320-3. doi: 10.1002/ajmg.a.30450. Am J Med Genet A. 2005. PMID: 15690380 Review.
Geleophysic dysplasia is an autosomal recessive short-limbed, dysmorphic syndrome. ...The natural history of his disorder highlights that the cardiac involvement seen in apparently stable forms of geleophysic dysplasia is frequently progressive....
Geleophysic dysplasia is an autosomal recessive short-limbed, dysmorphic syndrome. ...The natural history of his disorder high