No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome-Reference-Cited by-同舟云学术

No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome

Published:2015-05-02 Issue:1 Volume:10 Page:
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet J Rare Dis

Author:

Schlögel Matthieu J,Mendola Antonella,Fastré Elodie,Vasudevan Pradeep,Devriendt Koen,de Ravel Thomy JL,Van Esch Hilde,Casteels Ingele,Arroyo Carrera Ignacio,Cristofoli Francesca,Fieggen Karen,Jones Katheryn,Lipson Mark,Balikova Irina,Singer Ami,Soller Maria,Mercedes Villanueva María,Revencu Nicole,Boon Laurence M,Brouillard Pascal,Vikkula Miikka

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics(clinical),General Medicine

Link

http://link.springer.com/content/pdf/10.1186/s13023-015-0271-4.pdf

Reference46 articles.

1. McKusick VA, Stauffer M, Knox DL, Clark DB. Chorioretinopathy with hereditary microcephaly. Arch Ophthalmol. 1966;75:597–600.

2. Vasudevan PC, Garcia-Minaur S, Botella MP, Perez-Aytes A, Shannon NL, Quarrell OW. Microcephaly-lymphoedema-chorioretinal dysplasia: three cases to delineate the facial phenotype and review of the literature. Clin Dysmorphol. 2005;14:109–16.

3. Eventov-Friedman S, Singer A, Shinwell ES. Microcephaly, lymphedema, chorioretinopathy and atrial septal defect: a case report and review of the literature. Acta Paediatr. 2009;98:758–9.

4. Gupta A, Vasudevan P, Biswas S, Smith JC, Moore AT, Lloyd C, et al. Microcephaly with chorioretinal dysplasia: two case reports and a review of the literature. Ophthalmic Genet. 2009;30:157–60.

5. Lee BJ, Kim JH, Yu YS. Lissencephaly and mild cerebellar vermis hypoplasia in a case of microcephaly and chorioretinal dysplasia. Ophthalmic Genet. 2010;31:89–93.

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