Published in
BioMed Central, BMC Medical Genetics, 1(21), 2020
DOI: 10.1186/s12881-020-01091-1
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Severe syndromic ID and skewed X-inactivation in a girl with NAA10 dysfunction and a novel heterozygous de novo NAA10 p.(His16Pro) variant - a case report
Journal article published in 2020 by
Ingrid Bader 
,
Nina McTiernan,
Christine Darbakk,
Eugen Boltshauser,
Rasmus Ree ,
Sabine Ebner,
Johannes A. Mayr,
Thomas Arnesen
,
Nina McTiernan,
Christine Darbakk,
Eugen Boltshauser,
Rasmus Ree ,
Sabine Ebner,
Johannes A. Mayr,
Thomas Arnesen
This paper is made freely available by the publisher.
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