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New Syndrome

A previously undescribed syndrome combining fibular agenesis/hypoplasia, oligodactylous clubfeet, anonychia/ungual hypoplasia, and other defects†

  1. Silvana C. Santos1,2,
  2. Eliete Pardono1,
  3. Maria Ione Ferreira da Costa3,
  4. Aurea Nogueira de Melo4,
  5. Zodja Graciani5,
  6. Alessandra Cavalcanti de Albuquerque e Souza6,
  7. Karina Lezirovitz1,
  8. Renata Soares Thiele-Aguiar1,
  9. Regina Célia Mingroni-Netto1,
  10. John M. Opitz7,
  11. Fernando Kok1,5,
  12. Paulo A. Otto2,*

Article first published online: 14 NOV 2008

DOI: 10.1002/ajmg.a.32580

Issue

American Journal of Medical Genetics Part A

American Journal of Medical Genetics Part A

Volume 146A, Issue 24, pages 3126–3131, 15 December 2008

Additional Information

How to Cite

Santos, S. C., Pardono, E., Ferreira da Costa, M. I., de Melo, A. N., Graciani, Z., de Albuquerque e Souza, A. C., Lezirovitz, K., Thiele-Aguiar, R. S., Mingroni-Netto, R. C., Opitz, J. M., Kok, F. and Otto, P. A. (2008), A previously undescribed syndrome combining fibular agenesis/hypoplasia, oligodactylous clubfeet, anonychia/ungual hypoplasia, and other defects. Am. J. Med. Genet., 146A: 3126–3131. doi: 10.1002/ajmg.a.32580

Author Information

  1. 1

    Centro de Estudos do Genoma Humano, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil

  2. 2

    Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil

  3. 3

    Secretaria de Saúde Pública, Natal, Rio Grande do Norte, Brazil

  4. 4

    Centro de Ciências da Saúde, Universidade Federal do Rio Grande do Norte, Natal, Rio Grande do Norte, Brazil

  5. 5

    Departamento de Neurologia e Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil

  6. 6

    Centro de Reabilitação Infantil, Natal, Rio Grande do Norte, Brazil

  7. 7

    Pediatrics (Division of Medical Genetics), Human Genetics, Pathology, Obstetrics and Gynecology, University of Utah Health Sciences Center, Salt Lake City, Utah

*Department of Genetics and Evolutionary Biology, Instituto de Biociências, Universidade de São Paulo, P. O. Box 11461, 05422-970 São Paulo, SP, Brazil.

  1. †

    How to cite this article: Santos SC, Pardono E, Ferreira da Costa MI, de Melo AN, Graciani Z, de Albuquerque e Souza AC, Lezirovitz K, Thiele-Aguiar RS, Mingroni-Netto RC, Opitz JM, Kok F, Otto PA. 2008. A previously undescribed syndrome combining fibular agenesis/hypoplasia, oligodactylous clubfeet, anonychia/ungual hypoplasia and other defects. Am J Med Genet Part A 146A:3126–3131.

Publication History

  1. Issue published online: 21 NOV 2008
  2. Article first published online: 14 NOV 2008
  3. Manuscript Accepted: 4 SEP 2008
  4. Manuscript Received: 23 APR 2008

Funded by

  • Conselho Nacional de Desenvolvimento Científico e Tecnológico. Grant Number: CNPq 408827/2006-8

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