Expanding the ocular phenotype of 14q terminal deletions: A novel presentation of microphthalmia and coloboma in ring 14 syndrome with associated 14q32.31 deletion and review of the literature-Reference-Cited by-同舟云学术

Expanding the ocular phenotype of 14q terminal deletions: A novel presentation of microphthalmia and coloboma in ring 14 syndrome with associated 14q32.31 deletion and review of the literature

Published:2016-01-15 Issue:4 Volume:170 Page:1017-1022
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Salter Claire G.¹,Baralle Diana²,Collinson Morag N.³,Self James E.⁴⁵

Affiliation:

1. Wessex Clinical Genetics Service; Princess Anne Hospital; Southampton United Kingdom

2. Human Development and Health; School of Medicine; University of Southampton; Southampton United Kingdom

3. Wessex Regional Genetics Laboratory; Salisbury NHS Foundation Trust; Salisbury District Hospital; Salisbury Wiltshire United Kingdom

4. Department of Ophthalmology; Southampton General Hospital; Southampton United Kingdom

5. Clinical and Experimental Sciences; School of Medicine; University of Southampton; Southampton United Kingdom

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.37436/fullpdf

Reference16 articles.

1. Phenotype of autosomal recessive congential microphthalmia mapping to chromosome 14q32;Bessant;Br J Ophthalmol,1999

2. Ocular manifestations of chromosome 14 terminal deletion;Chung;J Pediatr Ophthalmol Strabismus,2006

3. A Phenotype map for 14q32.3 terminal deletions;Engels;Am J Med Genet Part A,2012

4. Ultrasonic evaluation of microphthalmos and coloboma;Fledelius;Acta Ophthalmol Scand,1996

5. A child with mosaicism for deletion (14)(q11.2q13);Gamage;Indian J Hum Genet,2012

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