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Article

NAA10 variant in 38-week-gestation male patient: a case study.

Cold Spring Harbor molecular case studies - 1 Dec 2020

Afrin Antara, Prokop Jeremy W, Underwood Adam, Uhl Katie L, VanSickle Elizabeth A, Baruwal Roja, Wajda Morgan, Rajasekaran Surender, Bupp Caleb

Abstract excerpt

We present a male patient born at 38-wk gestation with rhizomelic shortening of extremities, hepatomegaly, ventriculomegaly, heart failure, severely depressed left ventricular function, biventricular hypertrophy, and biatrial enlargement. Additional physical findings included anteriorly displaced anus, vertebral anomalies, and brachydactyly. The patient's cardiac malformations led to persistent hypotension, sinus...

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Exome Sequencing
Genes, X-Linked
Genetic Predisposition to Disease
Genetic Testing
Hepatomegaly

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Intellectual Disability

Models, Molecular

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Identifiers

PMID: 33335012
DOI: 10.1101/mcs.a005868
PMCID: PMC7784496

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