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Congenital ocular motor apraxia, the NPHP1 gene, and surveillance for nephronophthisis.
J AAPOS. 2013 Jun; 17(3):332-3.JA

Abstract

We present an 11-month-old girl with congenital ocular motor apraxia (COMA) and Joubert syndrome found to have a compound heterozygous mutation in the NPHP1 gene that is responsible for juvenile nephronophthisis type 1. The association of congenital ocular motor apraxia and juvenile nephronophthisis is reviewed. The patient does not currently manifest signs of renal failure, although her mutation indicates that she is at risk for the development of juvenile nephronophthisis type 1.

Authors+Show Affiliations

Department of Ophthalmology, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock, Arkansas 72202, USA.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

23683649

Citation

Deacon, Brita S., et al. "Congenital Ocular Motor Apraxia, the NPHP1 Gene, and Surveillance for Nephronophthisis." Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus, vol. 17, no. 3, 2013, pp. 332-3.
Deacon BS, Lowery RS, Phillips PH, et al. Congenital ocular motor apraxia, the NPHP1 gene, and surveillance for nephronophthisis. J AAPOS. 2013;17(3):332-3.
Deacon, B. S., Lowery, R. S., Phillips, P. H., & Schaefer, G. B. (2013). Congenital ocular motor apraxia, the NPHP1 gene, and surveillance for nephronophthisis. Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus, 17(3), 332-3. https://doi.org/10.1016/j.jaapos.2013.02.003
Deacon BS, et al. Congenital Ocular Motor Apraxia, the NPHP1 Gene, and Surveillance for Nephronophthisis. J AAPOS. 2013;17(3):332-3. PubMed PMID: 23683649.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Congenital ocular motor apraxia, the NPHP1 gene, and surveillance for nephronophthisis. AU - Deacon,Brita S, AU - Lowery,R Scott, AU - Phillips,Paul H, AU - Schaefer,G Bradley, Y1 - 2013/05/16/ PY - 2012/08/01/received PY - 2013/01/31/revised PY - 2013/02/19/accepted PY - 2013/5/21/entrez PY - 2013/5/21/pubmed PY - 2013/12/18/medline SP - 332 EP - 3 JF - Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus JO - J AAPOS VL - 17 IS - 3 N2 - We present an 11-month-old girl with congenital ocular motor apraxia (COMA) and Joubert syndrome found to have a compound heterozygous mutation in the NPHP1 gene that is responsible for juvenile nephronophthisis type 1. The association of congenital ocular motor apraxia and juvenile nephronophthisis is reviewed. The patient does not currently manifest signs of renal failure, although her mutation indicates that she is at risk for the development of juvenile nephronophthisis type 1. SN - 1528-3933 UR - https://www.unboundmedicine.com/medline/citation/23683649/Congenital_ocular_motor_apraxia_the_NPHP1_gene_and_surveillance_for_nephronophthisis_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S1091-8531(13)00100-6 DB - PRIME DP - Unbound Medicine ER -