A novel single nucleotide splice site mutation in FHL1 confirms an Emery-Dreifuss plus phenotype with pulmonary artery hypoplasia and facial dysmorphology

Publication: Research - peer-reviewJournal article

Original languageEnglish
JournalEuropean Journal of Medical Genetics
Volume58
Issue number4
Pages (from-to)222-229
Number of pages8
ISSN1769-7212
DOIs
StatePublished - Apr 2015

See relations at Aarhus University Citationformats

ID: 85289597