Exome sequencing in patients with microphthalmia, anophthalmia, and coloboma (MAC) from a consanguineous population

Next‐generation sequencing strategies have resulted in mutation detection rates of 21% to 61% in small cohorts of patients with microphthalmia, anophthalmia and coloboma (MAC), but despite progress in identifying novel causative genes, many patients remain without a genetic diagnosis. We studied a c...

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Veröffentlicht in:	Clinical genetics 2020-11, Vol.98 (5), p.499-506
Hauptverfasser:	Islam, Farrah, Htun, Stephanie, Lai, Li‐Wen, Krall, Max, Poranki, Menitha, Martin, Pierre‐Marie, Sobreira, Nara, Wohler, Elizabeth S., Yu, Jingwei, Moore, Anthony T., Slavotinek, Anne M.
Format:	Artikel
Sprache:	eng
Schlagworte:	Anophthalmia cataract Cataracts CDON Coloboma Consanguinity Genetic screening IQGAP1 protein Microphthalmia Signal transduction Single-nucleotide polymorphism TENM3 Wnt protein
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