A de novoGLI3mutation in a patient with acrocallosal syndrome-Reference-Cited by-同舟云学术

A de novoGLI3mutation in a patient with acrocallosal syndrome

Published:2013-04-30 Issue:6 Volume:161 Page:1394-1400
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Speksnijder Leonie¹,Cohen-Overbeek Titia E.¹,Knapen Maarten F.C.M.¹,Lunshof Simone M.²,Hoogeboom A. Jeannette M.³,van den Ouwenland Ans M.³,de Coo Irenaneus F.M.⁴,Lequin Maarten H.⁵,Bolz Hanno J.⁶,Bergmann Carsten⁶,Biesecker Leslie G.⁷,Willems Patrick J.⁸,Wessels Marja W.³

Affiliation:

1. Department of Obstetrics and Gynecology; Erasmus MC University Medical Center; Rotterdam; The Netherlands

2. Department of Obstetrics and Gynecology; Amphia Hospital; Breda; The Netherlands

3. Department of Clinical Genetics; Erasmus MC University Medical Center; Rotterdam; The Netherlands

4. Department of Pediatric Neurology; Erasmus MC University Medical Center; Rotterdam; The Netherlands

5. Department of Pediatric Radiology; Erasmus MC University Medical Center; Rotterdam; The Netherlands

6. Center for Human Genetics; Bioscientia; Ingelheim; Germany

7. Genetic Disease Research Branch; National Human Genome Research Institute, National Institutes of Health; Bethesda; Maryland

8. GENDIA (Genetic Diagnostic Network); 2020 Antwerp; Belgium

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.35874/fullpdf

Reference34 articles.

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3. Sibs with anencephaly, anophthalmia, clefts, omphalocele, and polydactyly: Hydrolethalus or acrocallosal syndrome;Christensen;Am J Med Genet,2000

4. Acrocallosal syndrome in an Algerian boy born to consanguineous parents: Review of the literature and further delineation of the syndrome;Courtens;Am J Med Genet,1997

5. Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics;Dafinger;J Clin Invest,2011

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