Clinical diagnostic exome evaluation for an infant with a lethal disorder: genetic diagnosis of TARP syndrome and expansion of the phenotype in a patient with a newly reported RBM10 alteration.
| Autor: | Powis, Zöe1 zpowis@ambrygen.com, Hart, Alexa2, Cherny, Sara2, Petrik, Igor1, Palmaer, Erika1, Sha Tang1, Jones, Carolyn2 |
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| Zdroj: | BMC Medical Genetics. 6/2/2017, Vol. 18, p1-5. 5p. |
| Databáze: | Academic Search Ultimate |
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