• Please log in or register to access this feature.

Clinical Report

You have free access to this content

A novel mutation in CDKN1C in sibs with Beckwith–Wiedemann syndrome and cleft palate, sensorineural hearing loss, and supernumerary flexion creases†‡

  1. Piranit Nik Kantaputra1,2,3,*,
  2. Rekwan Sittiwangkul4,
  3. Nuntigar Sonsuwan5,
  4. Valeria Romanelli6,7,
  5. Jair Tenorio6,7,
  6. Pablo Lapunzina6,7

Article first published online: 29 NOV 2012

DOI: 10.1002/ajmg.a.35663

Issue

American Journal of Medical Genetics Part A

American Journal of Medical Genetics Part A

Volume 161, Issue 1, pages 192–197, January 2013

Additional Information

How to Cite

Kantaputra, P. N., Sittiwangkul, R., Sonsuwan, N., Romanelli, V., Tenorio, J. and Lapunzina, P. (2013), A novel mutation in CDKN1C in sibs with Beckwith–Wiedemann syndrome and cleft palate, sensorineural hearing loss, and supernumerary flexion creases. Am. J. Med. Genet., 161: 192–197. doi: 10.1002/ajmg.a.35663

Author Information

  1. 1

    Division of Pediatric Dentistry, Department of Orthodontics and Pediatric Dentistry, Faculty of Dentistry, Chiang Mai University, Chiang Mai, Thailand

  2. 2

    Craniofacial Genetics Laboratory, Faculty of Dentistry, Chiang Mai University, Chiang Mai, Thailand

  3. 3

    DENTALAND CLINIC, Chiang Mai, Thailand

  4. 4

    Division of Pediatric Cardiology, Department of Pediatrics, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand

  5. 5

    Department of Otolaryngology, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand

  6. 6

    INGEMM, Instituto de Genética Médica y Molecular, IDIPaz, Hospital Universitario La Paz, Universidad Autónoma de Madrid, Madrid, Spain

  7. 7

    CIBERER-Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain

*Division of Pediatric Dentistry, Department of Orthodontics and Pediatric Dentistry; Craniofacial Genetics Laboratory, Faculty of Dentistry, Chiang Mai University; DENTALAND CLINIC, Chiang Mai 50200, Thailand.

  1. †

    How to Cite this Article: Kantaputra PN, Sittiwangkul R, Sonsuwan N, Romanelli V, Tenorio J, Lapunzina P. 2012. A novel mutation in CDKN1C in sibs with Beckwith–Wiedemann syndrome and cleft palate, sensorineural hearing loss, and supernumerary flexion creases. Am J Med Genet Part A 161A:192–197.

  2. ‡

    Conflict of interest: none to delcare.

Publication History

  1. Issue published online: 22 DEC 2012
  2. Article first published online: 29 NOV 2012
  3. Manuscript Accepted: 24 AUG 2012
  4. Manuscript Received: 15 MAR 2012

Funded by

  • Thailand Research Fund
  • Faculty of Dentistry, Chiang Mai ISCIII-FIS 11/2491 (PL)

SEARCH

SEARCH BY CITATION

ARTICLE TOOLS

View Full Article with Supporting Information (HTML) Get PDF (369K)

Additional Supporting Information may be found in the online version of this article.

FilenameFormatSizeDescription
ajmg_35663_sm_SupplFig.doc49KeFig. 1

Please note: Wiley-Blackwell is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.

View Full Article with Supporting Information (HTML) Get PDF (369K)