Whole Exome Sequencing Identifies Multiple Diagnoses in Congenital Glaucoma with Systemic Anomalies

The genetic basis of congenital glaucoma with systemic anomalies is largely unknown. Whole exome sequencing (WES) in 10 probands with congenital glaucoma and variable systemic anomalies identified pathogenic or likely pathogenic variants in three probands; in two of these, a combination of two Mende...

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Bibliographic Details
Main Author: Reis, LM (author)
Other Authors: Tyler, RC (author), Weh, E (author), Hendee, KE (author), Schilter, K F (author), Phillips, JA (author), Sequeira, S (author), Schinzel, A (author), Semina, EV (author)
Format: article
Language:eng
Published: 2017
Subjects:
Alleles
Cytochrome P-450 CYP1B1
DNA Mutational Analysis
Exome
Female
Forkhead Transcription Factors
Glaucoma
Heterozygote
Humans
Infant
Male
Membrane Proteins
Pedigree
Sequence Analysis, DNA
HDE MTB
Online Access:http://hdl.handle.net/10400.17/2795
Country:Portugal
Oai:oai:repositorio.chlc.min-saude.pt:10400.17/2795

Internet

http://hdl.handle.net/10400.17/2795

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