Early detection of bilateral cataracts in utero may represent a manifestation of severe congenital disease

Author:

Trkova Marie1,Hynek Martin12,Dudakova Lubica3,Becvarova Vera1,Hlozanek Martin4,Raskova Dagmar1,Vincent Andrea L.5,Liskova Petra36

Affiliation:

1. Gennet; Centre for Fetal Medicine and Reproductive Genetics; Prague Czech Republic

2. Department of Gynecology and Obstetrics; Thomayer Hospital; Prague Czech Republic

3. Institute of Inherited Metabolic Diseases; First Faculty of Medicine; Charles University in Prague and General University Hospital in Prague; Czech Republic

4. Department of Ophthalmology; Second Faculty of Medicine; Charles University in Prague and Motol Hospital in Prague; Czech Republic

5. Faculty of Medical and Health Sciences; Department of Ophthalmology; New Zealand National Eye Centre; University of Auckland; Auckland New Zealand

6. Department of Ophthalmology; First Faculty of Medicine; Charles University in Prague and General University Hospital in Prague; Prague Czech Republic

Funder

Nadace Leontinka

UNCE

Univerzita Karlova

SVV

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference21 articles.

1. Mutations of the catalytic subunit of RAB3GAP cause Warburg micro syndrome;Aligianis;Nat Genet,2005

2. New reference curves for head circumference at birth, by gestational age;Barbier;Pediatrics,2013

3. [Application of SNP array method in prenatal diagnosis];Becvárová;Ceska Gynekol,2011

4. Loss-of-function mutations in RAB18 cause Warburg micro syndrome;Bem;Am J Hum Genet,2011

5. A homozygous RAB3GAP2 mutation causes Warburg micro syndrome;Borck;Hum Genet,2011

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