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Results: 7

1.

Similarity of geleophysic dysplasia and Weill-Marchesani syndrome.

Kochhar A, Kirmani S, Cetta F, Younge B, Hyland JC, Michels V.

Am J Med Genet A. 2013 Dec;161A(12):3130-2. doi: 10.1002/ajmg.a.36147. Epub 2013 Sep 24.

PMID:
24214363
2.

A Japanese child with geleophysic dysplasia caused by a novel mutation of FBN1.

Lee T, Takeshima Y, Okizuka Y, Hamahira K, Kusunoki N, Awano H, Yagi M, Sakai N, Matsuo M, Iijima K.

Gene. 2013 Jan 10;512(2):456-9. doi: 10.1016/j.gene.2012.10.060. Epub 2012 Nov 2.

PMID:
23124041
3.

From tall to short: the role of TGFβ signaling in growth and its disorders.

Le Goff C, Cormier-Daire V.

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. Review.

PMID:
22791552
4.

Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia.

Allali S, Le Goff C, Pressac-Diebold I, Pfennig G, Mahaut C, Dagoneau N, Alanay Y, Brady AF, Crow YJ, Devriendt K, Drouin-Garraud V, Flori E, Geneviève D, Hennekam RC, Hurst J, Krakow D, Le Merrer M, Lichtenbelt KD, Lynch SA, Lyonnet S, MacDermot K, Mansour S, Megarbané A, Santos HG, Splitt M, Superti-Furga A, Unger S, Williams D, Munnich A, Cormier-Daire V.

J Med Genet. 2011 Jun;48(6):417-21. doi: 10.1136/jmg.2010.087544. Epub 2011 Mar 17.

PMID:
21415077
5.

Genetic and molecular aspects of acromelic dysplasia.

Le Goff C, Cormier-Daire V.

Pediatr Endocrinol Rev. 2009 Mar;6(3):418-23. Review.

PMID:
19396027
6.

Perthes-like changes in geleophysic dysplasia.

Keret D, Lokiec F, Hayek S, Segev E, Ezra E.

J Pediatr Orthop B. 2002 Apr;11(2):100-3.

PMID:
11943981
7.

Geleophysic dysplasia: 7-year follow-up study of a patient with an intermediate form.

Titomanlio L, Della Casa R, Lecora M, Farina V, Sebastio G, Andria G, Parenti G.

Am J Med Genet. 1999 Sep 3;86(1):82-5.

PMID:
10440835
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