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

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 an...

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Bibliografiske detaljer
Udgivet i:Cold Spring Harb Mol Case Stud
Main Authors: Afrin, Antara, Prokop, Jeremy W., Underwood, Adam, Uhl, Katie L., VanSickle, Elizabeth A., Baruwal, Roja, Wajda, Morgan, Rajasekaran, Surender, Bupp, Caleb
Format: Artigo
Sprog:Inglês
Udgivet: Cold Spring Harbor Laboratory Press 2020
Fag:
Research Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7784496/
https://ncbi.nlm.nih.gov/pubmed/33335012
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a005868
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