Imperial College London
Alternate

DrDeborahMorris-Rosendahl

Faculty of Medicine, National Heart & Lung Institute

Honorary Senior Research Fellow
 
 
 
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Contact

 

+44 (0)20 7351 8412d.morris-rosendahl

 
 
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Location

 

2091Royal BromptonRoyal Brompton Campus

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Summary

 

Publications

Citation

BibTex format

@article{Dursun:2012:10.1515/jpem-2011-0459,
author = {Dursun, F and Güven, A and Morris-Rosendahl, D},
doi = {10.1515/jpem-2011-0459},
journal = {J Pediatr Endocrinol Metab},
pages = {379--382},
title = {Warburg Micro syndrome.},
url = {http://dx.doi.org/10.1515/jpem-2011-0459},
volume = {25},
year = {2012}
}
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RIS format (EndNote, RefMan)

TY  - JOUR
AB  - Micro syndrome is an autosomal recessive disorder characterized by severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis, or hypoplasia of the corpus callosum and hypogenitalism. We report an 11-month-old boy who was referred for assessment of micropenis and cryptorchidism. Sequence analysis of exon 8 of the RAB3GAP1 gene confirmed the presence of a splice donor mutation (748+1G>A) in the homozygous state.
AU  - Dursun,F
AU  - Güven,A
AU  - Morris-Rosendahl,D
DO  - 10.1515/jpem-2011-0459
EP  - 382
PY  - 2012///
SN  - 0334-018X
SP  - 379
TI  - Warburg Micro syndrome.
T2  - J Pediatr Endocrinol Metab
UR  - http://dx.doi.org/10.1515/jpem-2011-0459
UR  - https://www.ncbi.nlm.nih.gov/pubmed/22768674
VL  - 25
ER  -
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