Compound heterozygous mutations with novel missense ABCA12 mutation in harlequin ichthyosis
Compound heterozygous mutations with novel missense ABCA12 mutation in harlequin ichthyosis
About this item
Full title
Author / Creator
Publisher
England: BMJ Publishing Group LTD
Journal title
Language
English
Formats
Publication information
Publisher
England: BMJ Publishing Group LTD
Subjects
More information
Scope and Contents
Contents
Harlequin ichthyosis (HI) is the most severe form of autosomal recessive congenital ichthyosis, presenting at birth with distinctive facial features and thick, plate-like scales over the entire body. The abnormal skin barrier predisposes the patient to multiple complications, including dehydration and sepsis. Mortality rates of babies with HI have...
Alternative Titles
Full title
Compound heterozygous mutations with novel missense ABCA12 mutation in harlequin ichthyosis
Authors, Artists and Contributors
Author / Creator
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5775800
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5775800
Other Identifiers
ISSN
1757-790X
E-ISSN
1757-790X
DOI
10.1136/bcr-2017-222025
