(Q41934173)

English

Microcephaly-lymphedema-chorioretinal dysplasia associated with pachymicrogyria and atrophy of the cerebellar vermis: an integration of brain-ocular migration disorders

scientific article published on 15 March 2012

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scholarly article

1 reference

Europe PubMed Central

14 October 2017

Microcephaly-lymphedema-chorioretinal dysplasia associated with pachymicrogyria and atrophy of the cerebellar vermis: an integration of brain-ocular migration disorders (English)

1 reference

Europe PubMed Central

14 October 2017

0 references

author name string

Natalia Pastora

1

1 reference

Europe PubMed Central

14 October 2017

Jesus Peralta

2

1 reference

Europe PubMed Central

14 October 2017

Irene Canal-Fontcuberta

3

1 reference

Europe PubMed Central

14 October 2017

Anna Grabowska

4

1 reference

Europe PubMed Central

14 October 2017

Jose S Pulido

5

1 reference

Europe PubMed Central

14 October 2017

Jose Abelairas

6

1 reference

Europe PubMed Central

14 October 2017

Felix Armada

7

1 reference

Europe PubMed Central

14 October 2017

Alfredo Garcia-Alix

8

1 reference

Europe PubMed Central

14 October 2017

publication date

15 March 2012

1 reference

Europe PubMed Central

14 October 2017

Ophthalmic Genetics

1 reference

Europe PubMed Central

14 October 2017

33

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Europe PubMed Central

14 October 2017

2

1 reference

Europe PubMed Central

14 October 2017

116-118

1 reference

Europe PubMed Central

14 October 2017

Chorioretinal dysplasia-microcephaly-mental retardation syndrome: report of an American family

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2011.626012

21 January 2018

Microcephaly-lymphedema-chorioretinal dysplasia: a unique genetic syndrome with variable expression and possible characteristic facial appearance

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2011.626012

21 January 2018

Microcephaly with chorioretinopathy in a brother-sister pair: evidence for germ line mosaicism and further delineation of the ocular phenotype.

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2011.626012

21 January 2018

Microcephaly-lymphoedema-chorioretinal dysplasia: three cases to delineate the facial phenotype and review of the literature

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2011.626012

21 January 2018

Lissencephaly and mild cerebellar vermis hypoplasia in a case of microcephaly and chorioretinal dysplasia

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2011.626012

21 January 2018

Microcephaly-lymphoedema-chorioretinal-dysplasia syndrome with atrial septal defect

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2011.626012

21 January 2018

Microcephaly with chorioretinal dysplasia: two case reports and a review of the literature

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2011.626012

21 January 2018

Autosomal dominant microcephaly--lymphoedema-chorioretinal dysplasia syndrome

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2011.626012

21 January 2018

The full spectrum of persistent fetal vasculature in Aicardi syndrome: an integrated interpretation of ocular malformation

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2011.626012

21 January 2018

Contiguous deletion of the NDP, MAOA, MAOB, and EFHC2 genes in a patient with Norrie disease, severe psychomotor retardation and myoclonic epilepsy.

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2011.626012

21 January 2018

Optic nerve axons: life and death before birth.

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2011.626012

21 January 2018

Neuronal migration disorders

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2011.626012

21 January 2018

Identifiers

10.3109/13816810.2011.626012

1 reference

Europe PubMed Central

14 October 2017

1 reference

Europe PubMed Central

14 October 2017

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