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Lamin a truncation in Hutchinson-Gilford progeria.

Science (New York, N.Y.), June 27, 2003, Vol.300(5628), p.2055 [Peer Reviewed Journal]

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Exome Sequencing Identifies INPPL1 Mutations as a Cause of Opsismodysplasia

The American Journal of Human Genetics, 10 January 2013, Vol.92(1), pp.144-149 [Peer Reviewed Journal]

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Exome Sequencing Identifies PDE4D Mutations as Another Cause of Acrodysostosis

The American Journal of Human Genetics, 06 April 2012, Vol.90(4), pp.740-745 [Peer Reviewed Journal]

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Lamin a Truncation in Hutchinson-Gilford Progeria

Science, 27 June 2003, Vol.300(5628), pp.2055-2055 [Peer Reviewed Journal]

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Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations

The American Journal of Human Genetics, 04 May 2012, Vol.90(5), pp.864-870 [Peer Reviewed Journal]

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Mutations in the TGFβ Binding-Protein-Like Domain 5 of FBN1 Are Responsible for Acromicric and Geleophysic Dysplasias

The American Journal of Human Genetics, 15 July 2011, Vol.89(1), pp.7-14 [Peer Reviewed Journal]

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Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum.

Journal of medical genetics, February 2011, Vol.48(2), pp.88-92 [Peer Reviewed Journal]

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Expanding the skeletal phenotype of Loeys-Dietz syndrome.

American journal of medical genetics. Part A, May 2011, Vol.155A(5), pp.1178-1183 [Peer Reviewed Journal]

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Mainzer-Saldino syndrome is a ciliopathy caused by mutations in the IFT140 gene

Cilia, 2012, Vol.1(Suppl 1), p.O28 [Peer Reviewed Journal]

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Conference Proceeding
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Asphyxiating Thoracic Dysplasia: clinical and molecular review of 42 families

Cilia, 2012, Vol.1(Suppl 1), p.O4 [Peer Reviewed Journal]

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by this Author/Contributor:

  1. Le Merrer, Martine
  2. Munnich, Arnold
  3. Le Merrer, M.
  4. Munnich, A.
  5. Cormier-Daire, Valérie

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