Open AccessRapid Identification of Biallelic <b><i>SPTB</i></b> Mutation in a Neonate with Severe Congenital Hemolytic Anemia and Liver Failure
Author(s) -
Christopher Richmond,
Sally Campbell,
Hee Wei Foo,
Sebastian Lunke,
Zornitza Stark,
Amanda Moody,
Elizabeth Bannister,
Anthea Greenway,
Natasha J. Brown
Publication year - 2020
Publication title -
molecular syndromology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.609
H-Index - 36
eISSN - 1661-8777
pISSN - 1661-8769
DOI - 10.1159/000505886
Subject(s) - hereditary spherocytosis , medicine , hemolytic anemia , compound heterozygosity , anemia , immunology , asymptomatic , mutation , biology , genetics , gene