Acro-osteolysis, keloid like-lesions, distinctive facial features, and overgrowth: Two newly recognized patients with premature aging syndrome, penttinen type-Reference-Cited by-同舟云学术

Acro-osteolysis, keloid like-lesions, distinctive facial features, and overgrowth: Two newly recognized patients with premature aging syndrome, penttinen type

Published:2013-05-29 Issue:7 Volume:161 Page:1786-1791
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Zufferey Flore¹,Hadj-Rabia Smaïl²,De Sandre-Giovannoli Annachiara³,Dufier Jean-Louis⁴,Leheup Bruno⁵,Schweitze Cyril⁵,Bodemer Christine²,Cormier-Daire Valérie¹,Le Merrer Martine¹

Affiliation:

1. Université Paris Descartes, Département de Génétique et INSERM U781, Centre de référence Maladies osseuses constitutionnelles, AP-HP, Hôpital Necker-Enfants Malades; Paris; France

2. Service de Dermatologie, Centre de référence des Maladies Génétiques à Expression Cutanée; INSERMU781, Université Paris Descartes, Hôpital Necker-EnfantsMalades; Paris; France

3. Département de Génétique Médicale; Laboratoire de Génétique Moléculaire, Hôpital La Timone Enfants et INSERM U910, Faculté de Médecine; Marseille; France

4. Service d'ophtalmologie; Université Paris Descartes, Hôpital Necker-Enfants Malades; Paris; France

5. Service de Médecine Infantile et Génétique Clinique; Pôle Enfants, CHU de Nancy et Université de Lorraine; Vandoeuvre les Nancy; France

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.35984/fullpdf

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3. Further evidence for a marfanoid syndrome with neonatal progeroid features and severe generalized lipodystrophy due to frameshift mutations near the 3′ end of the FBN1 gene;Goldblatt;Am J Med Genet Part A,2011

4. Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3′ terminus of the FBN1-gene;Graul-Neumann;Am J Med Genet Part A,2010

5. A new hereditary conjunctivo-corneal dystrophy associated with dermal keloid formation. Report of a family;Haugen;Acta Ophthalmol Scand,1998

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