Chunk #22 — Methods — Patients and Samples

Source

Exome sequencing identifies the cause of a mendelian disorder.

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yes

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A referral diagnosis of Miller syndrome made by a clinical geneticist was required for inclusion. The clinical characteristics of several of the individuals who had been diagnosed with Miller syndrome have been reported previously11,13,14. Phenotypic data were collected from review of medical records, phone interviews, and photographs.