A Case of HDR Syndrome and Ichthyosis: Dual Diagnosis by Whole-Genome Sequencing of Novel Mutations inGATA3andSTSGenes | Zendy

Gregory A. Goodwin | Zendy; Pamela Hawley | Zendy; David T. Miller | Zendy

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A Case of HDR Syndrome and Ichthyosis: Dual Diagnosis by Whole-Genome Sequencing of Novel Mutations inGATA3andSTSGenes

Author(s) -

Gregory A. Goodwin,

Pamela Hawley,

David T. Miller

Publication year - 2016

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2015-3704

Subject(s) - exome sequencing , gata3 , ichthyosis , exome , medicine , genetic testing , genetics , biology , mutation , bioinformatics , gene , transcription factor

Atypical presentations of complex multisystem disorders may elude diagnosis based on clinical findings only. Appropriate diagnostic tests may not be available or available tests may not provide appropriate coverage of relevant genomic regions for patients with complex phenotypes. Clinical whole-exome/-genome sequencing is often considered for complex patients lacking a definitive diagnosis.

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