A report of a new case of an interstitial deletion at 3p25.3 and expansion of the clinical phenotype

Clin Dysmorphol. 2014 Apr;23(2):63-66. doi: 10.1097/MCD.0000000000000030.

Authors

Lucy Bownass¹, Peter Lunt, Cathy Williams, Tamsin Woodbridge, Matthew Ellis, Ingrid Scurr

Affiliation

¹ Department of Clinical Genetics, St Michael's Hospital Department of Paediatric Ophthalmology, University Hospitals Bristol Centre for Child and Adolescent Health, School of Social and Community Medicine, University of Bristol, Bristol National Genetics Education and Development Centre, Birmingham Women's Hospital, Birmingham, UK.

PMID: 24561646
DOI: 10.1097/MCD.0000000000000030

No abstract available

MeSH terms

Blepharophimosis / genetics
Blepharophimosis / physiopathology
Child
Chromosome Deletion*
Chromosomes, Human, Pair 3 / genetics*
Developmental Disabilities / genetics*
Developmental Disabilities / physiopathology
Female
Humans
Phenotype

Grants and funding

CDF-2009-02-35/DH_/Department of Health/United Kingdom