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PLoS genetics, ISSN 1553-7390, 2011, Volume 7, Issue 7, pp. e1002114 - e1002114
Journal Article
Journal of AAPOS, ISSN 1091-8531, 08/2018, Volume 22, Issue 4, pp. e49 - e49
Journal Article
BMC Medical Genetics, ISSN 1471-2350, 12/2009, Volume 10, Issue 1
Journal Article
Clinical Dysmorphology, ISSN 0962-8827, 01/2019, Volume 28, Issue 1, pp. 46 - 49
Journal Article
American Journal of Obstetrics and Gynecology, ISSN 0002-9378, 2012, Volume 206, Issue 1, pp. S312 - S312
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 01/2012, Volume 158A, Issue 1, pp. 267 - 267
Journal Article
Case reports in pediatrics, ISSN 2090-6803, 2013, Volume 2013, pp. 218124 - 4
We report a patient with Cat eye syndrome (CES) associated with anatomical asplenia. To the best of our knowledge, there have been no prior reports of this... 
Case Report
Journal Article
Molecular Vision, ISSN 1090-0535, 2010, Volume 16, Issue 83-86, pp. 768 - 773
Purpose: The role of SRY-Box 2 (SOX2) in anophthalmia/microphthalmia (A/M) is well known, with 10%-20% of A/M explained by mutations in SOX2. SOX2 plays roles... 
EMBRYONIC-DEVELOPMENT | GENE | FORM | ANOPHTHALMIA SYNDROME | BIOCHEMISTRY & MOLECULAR BIOLOGY | INVOLVEMENT | LENS INDUCTION | OPHTHALMOLOGY | EXPRESSION | FAMILY | Phenotype | Frameshift Mutation | SOXB1 Transcription Factors - genetics | Microphthalmos - genetics | Gene Deletion | Humans | Eye Abnormalities - genetics | Anophthalmos - genetics | Cohort Studies | Index Medicus
Journal Article
01/2017, ISBN 9783319183893
Book Chapter
Book
The Journal of Pediatrics, ISSN 0022-3476, 06/2000, Volume 136, Issue 6, pp. 818 - 822
Journal Article
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