Diagnostic exome sequencing identifies GLI2 haploinsufficiency and chromosome 20 uniparental disomy in a patient with developmental anomalies

Key Clinical Message Clinical diagnostic exome sequencing (DES) is currently infrequently used for detecting uniparental disomy (UPD). We present a patient with a dual diagnosis of GLI2 haploinsufficiency as well as UPD of chromosome 20, both identified through DES. We therefore recommend routine UP...

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Autors principals:	Samin A. Sajan, Zöe Powis, Katherine L. Helbig, Honey Nagakura, Ladonna Immken, Sha Tang, Wendy A. Alcaraz
Format:	Artigo
Idioma:	Inglês
Publicat:	Wiley 2018-07-01
Col·lecció:	Clinical Case Reports
Matèries:	developmental anomalies diagnostic exome sequencing GLI2 uniparental disomy
Accés en línia:	https://doi.org/10.1002/ccr3.1575
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