When Genetic Testing Can't Find THE Answer: How Unique Clinical Presentations Challenge the Clinician

Dato-on, Katelyn Anne; White, K; Curtin, M; Christensen, C

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When Genetic Testing Can't Find THE Answer: How Unique Clinical Presentations Challenge the Clinician Public Deposited

MLA citation style

Dato-on, Katelyn Anne, et al. When Genetic Testing Can't Find The Answer: How Unique Clinical Presentations Challenge the Clinician. . 2020. https://mushare.marian.edu/concern/generic_works/0537176f-10e4-4010-aada-2619a54cb276?locale=en

APA citation style

Dato-on, Katelyn Anne, White, K, Curtin, M, & Christensen, C. (2020). When Genetic Testing Can't Find THE Answer: How Unique Clinical Presentations Challenge the Clinician. https://mushare.marian.edu/concern/generic_works/0537176f-10e4-4010-aada-2619a54cb276?locale=en

Chicago citation style

Dato-on, Katelyn Anne, White, K, Curtin, M, and Christensen, C. When Genetic Testing Can't Find The Answer: How Unique Clinical Presentations Challenge the Clinician. 2020. https://mushare.marian.edu/concern/generic_works/0537176f-10e4-4010-aada-2619a54cb276?locale=en

Note: These citations are programmatically generated and may be incomplete.

Multi-system disorders may be difficult to differentiate between, especially as genetic causes are still being defined and in light of phenotypic variability. We present a case of a teen with multiple congenital defects for which genetic testing was inconclusive, showing features of : Noonan Syndrome (NS), Mullerian duct aplasia-renal aplasia-cervicothoracic somite dysplasia (MURCS), and VACTERL association.

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