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  2. Details for: A de novo GLI3 mutation in a patient with acrocallosal syndrome.
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A de novo GLI3 mutation in a patient with acrocallosal syndrome. [electronic resource]

By:
  • Speksnijder, Leonie
Contributor(s):
  • Cohen-Overbeek, Titia E
  • Knapen, Maarten F C M
  • Lunshof, Simone M
  • Hoogeboom, A Jeannette M
  • van den Ouwenland, Ans M
  • de Coo, Irenaneus F M
  • Lequin, Maarten H
  • Bolz, Hanno J
  • Bergmann, Carsten
  • Biesecker, Leslie G
  • Willems, Patrick J
  • Wessels, Marja W
Producer: 20160415Description: 1394-400 p. digitalISSN:
  • 1552-4833
Subject(s):
  • Abnormalities, Multiple -- diagnosis
  • Acrocallosal Syndrome -- diagnosis
  • Acrocephalosyndactylia -- diagnosis
  • Amino Acid Substitution
  • Craniosynostoses -- diagnosis
  • Diagnosis, Differential
  • Female
  • Genetic Association Studies
  • Heterozygote
  • Humans
  • Infant
  • Kruppel-Like Transcription Factors -- genetics
  • Mutation, Missense
  • Nerve Tissue Proteins -- genetics
  • Phenotype
  • Pregnancy
  • Prenatal Diagnosis
  • Zinc Finger Protein Gli3
Online resources:
  • Available from publisher's website
In: American journal of medical genetics. Part A vol. 161A
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Publication Type: Case Reports; Journal Article

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A de novo GLI3 mutation in a patient with acrocallosal syndrome.

APA

Speksnijder L., Cohen-Overbeek T. E., Knapen M. F. C. M., Lunshof S. M., Hoogeboom A. J. M., van den Ouwenland A. M., de Coo I. F. M., Lequin M. H., Bolz H. J., Bergmann C., Biesecker L. G., Willems P. J. & Wessels M. W. (20160415). A de novo GLI3 mutation in a patient with acrocallosal syndrome. : American journal of medical genetics. Part A.

Chicago

Speksnijder Leonie, Cohen-Overbeek Titia E, Knapen Maarten F C M, Lunshof Simone M, Hoogeboom A Jeannette M, van den Ouwenland Ans M, de Coo Irenaneus F M, Lequin Maarten H, Bolz Hanno J, Bergmann Carsten, Biesecker Leslie G, Willems Patrick J and Wessels Marja W. 20160415. A de novo GLI3 mutation in a patient with acrocallosal syndrome. : American journal of medical genetics. Part A.

Harvard

Speksnijder L., Cohen-Overbeek T. E., Knapen M. F. C. M., Lunshof S. M., Hoogeboom A. J. M., van den Ouwenland A. M., de Coo I. F. M., Lequin M. H., Bolz H. J., Bergmann C., Biesecker L. G., Willems P. J. and Wessels M. W. (20160415). A de novo GLI3 mutation in a patient with acrocallosal syndrome. : American journal of medical genetics. Part A.

MLA

Speksnijder Leonie, Cohen-Overbeek Titia E, Knapen Maarten F C M, Lunshof Simone M, Hoogeboom A Jeannette M, van den Ouwenland Ans M, de Coo Irenaneus F M, Lequin Maarten H, Bolz Hanno J, Bergmann Carsten, Biesecker Leslie G, Willems Patrick J and Wessels Marja W. A de novo GLI3 mutation in a patient with acrocallosal syndrome. : American journal of medical genetics. Part A. 20160415.

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