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Identification and characterization of a novel TACSTD2 mutation in gelatinous drop-like corneal dystrophy

PURPOSE: To study the clinical, histological, in vivo confocal microscopic, and molecular profile in a family with gelatinous drop-like corneal dystrophy (GDLD) from north India. METHODS: Two siblings from a consanguineous family presented with clinical features analogous to GDLD. Detailed clinical...

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Autors principals: Paliwal, Preeti, Gupta, Jaya, Tandon, Radhika, Sharma, Namrata, Titiyal, Jeewan S., Kashyap, Seema, Sen, Seema, Kaur, Punit, Dube, Divya, Sharma, Arundhati, Vajpayee, Rasik B.
Format: Artigo
Idioma:Inglês
Publicat: Molecular Vision 2010
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2862246/
https://ncbi.nlm.nih.gov/pubmed/20454699
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