Whole exome sequencing discloses heterozygous variants in the DNAJC21 and EFL1 genes but not in SRP54 in 6 out of 16 patients with Shwachman-Diamond Syndrome carrying biallelic SBDS mutations.

Jacopo MoriniLucia NacciGabriele BabiniSimone CesaroRoberto ValliAndrea OttolenghiElena NicolisEmily PintaniEmanuela MaseratiMarco CipolliCesare DanesinoClaudia ScottiAntonella Minelli

Published in: British journal of haematology (2018)

Keyphrases

copy number
genome wide
early onset
intellectual disability
case report
bioinformatics analysis
genome wide identification
gene expression
genome wide analysis