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  2. Details for: A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus.
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A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus. [electronic resource]

By:
  • Dunn, P
Contributor(s):
  • Prigatano, G P
  • Szelinger, S
  • Roth, J
  • Siniard, A L
  • Claasen, A M
  • Richholt, R F
  • De Both, M
  • Corneveaux, J J
  • Moskowitz, A M
  • Balak, C
  • Piras, I S
  • Russell, M
  • Courtright, A L
  • Belnap, N
  • Rangasamy, S
  • Ramsey, K
  • Opitz, J M
  • Craig, D W
  • Narayanan, V
  • Huentelman, M J
  • Schrauwen, I
Producer: 20171019Description: 611-617 p. digitalISSN:
  • 1552-4833
Subject(s):
  • Adolescent
  • Agenesis of Corpus Callosum -- diagnosis
  • Anus, Imperforate -- diagnosis
  • Child
  • Child, Preschool
  • Constipation -- diagnosis
  • Facies
  • Female
  • Gene Expression
  • Genetic Association Studies
  • Guanylate Kinases -- genetics
  • High-Throughput Nucleotide Sequencing
  • Humans
  • In Situ Hybridization, Fluorescence
  • Male
  • X-Linked Intellectual Disability -- diagnosis
  • Muscle Hypotonia -- congenital
  • Mutation
  • Neuropsychological Tests
  • Nystagmus, Congenital -- diagnosis
  • Phenotype
  • Polymorphism, Single Nucleotide
  • RNA Splice Sites
Online resources:
  • Available from publisher's website
In: American journal of medical genetics. Part A vol. 173
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Publication Type: Case Reports; Journal Article

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A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus.

APA

Dunn P., Prigatano G. P., Szelinger S., Roth J., Siniard A. L., Claasen A. M., Richholt R. F., De Both M., Corneveaux J. J., Moskowitz A. M., Balak C., Piras I. S., Russell M., Courtright A. L., Belnap N., Rangasamy S., Ramsey K., Opitz J. M., Craig D. W., Narayanan V., Huentelman M. J. & Schrauwen I. (20171019). A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus. : American journal of medical genetics. Part A.

Chicago

Dunn P, Prigatano G P, Szelinger S, Roth J, Siniard A L, Claasen A M, Richholt R F, De Both M, Corneveaux J J, Moskowitz A M, Balak C, Piras I S, Russell M, Courtright A L, Belnap N, Rangasamy S, Ramsey K, Opitz J M, Craig D W, Narayanan V, Huentelman M J and Schrauwen I. 20171019. A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus. : American journal of medical genetics. Part A.

Harvard

Dunn P., Prigatano G. P., Szelinger S., Roth J., Siniard A. L., Claasen A. M., Richholt R. F., De Both M., Corneveaux J. J., Moskowitz A. M., Balak C., Piras I. S., Russell M., Courtright A. L., Belnap N., Rangasamy S., Ramsey K., Opitz J. M., Craig D. W., Narayanan V., Huentelman M. J. and Schrauwen I. (20171019). A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus. : American journal of medical genetics. Part A.

MLA

Dunn P, Prigatano G P, Szelinger S, Roth J, Siniard A L, Claasen A M, Richholt R F, De Both M, Corneveaux J J, Moskowitz A M, Balak C, Piras I S, Russell M, Courtright A L, Belnap N, Rangasamy S, Ramsey K, Opitz J M, Craig D W, Narayanan V, Huentelman M J and Schrauwen I. A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus. : American journal of medical genetics. Part A. 20171019.

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