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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Detalhes bibliográficos
Autor principal: Reis, LM (author)
Outros Autores: 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)
Formato: article
Idioma:eng
Publicado em: 2017
Assuntos:
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
Texto completo:http://hdl.handle.net/10400.17/2795
País:Portugal
Oai:oai:repositorio.chlc.min-saude.pt:10400.17/2795

Texto Completo

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

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