Nail-patella syndrome associated with short stature: A case series

Case Reports in Medicine

Volumn 2010, Issue , 2010, Pages

  Haddad, Samir ^a   Ghedira Besbes, Leila ^a   Bouafsoun, Chahra ^a   Hammami, Sabeur ^a   Chouchene, Slaheddine ^a   Meriem, Chebil Ben ^a   Guediche, Mohamed Néji ^a  

^a FATTOUMA BOURGUIBA UNIVERSITY HOSPITAL   (Tunisia)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84983063167     PISSN: 16879627     EISSN: 16879635     Source Type: Journal    
DOI: 10.1155/2010/869470     Document Type: Article

References (6)

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2. B. A. Schulz-Butulis, M. D. Welch, and S. A. Norton, "Nailpatella syndrome," Journal of the American Academy of Dermatology, vol. 49, no. 6, pp. 1086-1087, 2003.
3. J. Finsterer, C. Stöllberger, C. Steger, and W. Cozzarini, "Complete heart block associated with noncompaction, nail-patella syndrome, and mitochondrial myopathy," Journal of Electrocardiology, vol. 40, no. 4, pp. 352-354, 2007. (Pubitemid 46961994)
4. G. L. Lucas, J. M. Opitz, and C. Wiffler, "The nail-patella syndrome: clinical and genetic aspects of 5 kindreds with 38 affected family members," The Journal of Pediatrics, vol. 68, no. 2, pp. 273-288, 1966.
5. E. Millá, I. Hernan, M. J. Gamundi, M. Martínez-Gimeno, and M. Carballo, "Novel LMX1B mutation in familial nail-patella syndrome with variable expression to open angle glaucoma," Molecular Vision, vol. 13, pp. 639-648, 2007. (Pubitemid 46710811)
6. U. Sato, S. Kitanaka, T. Sekine, S. Takahashi, A. Ashida, and T. Igarashi, "Functional characterization of LMX1B mutations associated with nail-patella syndrome," Pediatric Research, vol. 57, no. 6, pp. 783-788, 2005. (Pubitemid 40727106)