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Harlequin Fetus

Known as: Syndrome, Harlequin Baby, HI, Ichthyosis, Harlequin 
A very rare and usually lethal autosomal recessive inherited disorder of the skin caused by mutations in the ABCA12 gene. It is characterized by the… 
National Institutes of Health

Related topics

Related topics

8 relations
Congenital AbnormalityCongenital Nonbullous Ichthyosiform ErythrodermaHarlequin type ichthyosisHereditary Diseases

Broader (1)

Congenital ichthyosis

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2019
Highly Cited
2019
Ultrastructural details of mammalian chromosome architecture
Over the past decade, 3C-related methods, complemented by increasingly detailed microscopic views of the nucleus, have provided… 
Review
2010
Review
2010
ABCA12 mutations and autosomal recessive congenital ichthyosis: A review of genotype/phenotype correlations and of pathogenetic concepts a
Mutations in ABCA12 have been described in autosomal recessive congenital ichthyoses (ARCI) including harlequin ichthyosis (HI… 
Review
2008
Review
2008
Harmonia axyridis in Great Britain: analysis of the spread and distribution of a non-native coccinellid
Harmonia axyridis (Pallas) (Coleoptera: Coccinellidae) is native to Asia, and was widely introduced as a biocontrol agent of… 
Review
2007
Review
2007
The ABCA subfamily—gene and protein structures, functions and associated hereditary diseases
To date, 12 members of the human ABCA subfamily are identified. They share a high degree of sequence conservation and have been… 
Highly Cited
2006
Highly Cited
2006
The potential impacts of the arrival of the harlequin ladybird, Harmonia axyridis (Pallas) (Coleoptera: Coccinellidae), in Britain
Abstract.  1. The harlequin ladybird, Harmonia axyridis, has recently arrived in Britain. 
Highly Cited
2001
Highly Cited
2001
Matrix Metalloproteinase Expression Is Related to Hemorrhagic Transformation After Cardioembolic Stroke
Background and Purpose— In animal models of cerebral ischemia, matrix metalloproteinase (MMP) expression was significantly… 
Highly Cited
1997
Highly Cited
1997
Predicting recovery from head injury in young children: A prospective analysis
It has been argued that young children's brains are “plastic,” and may sustain substantial brain insult with little loss of… 
Highly Cited
1992
Highly Cited
1992
Abnormal lamellar granules in harlequin ichthyosis.
Lamellar granules are specialized lipid-rich organelles present in epidermal granular cells. They fuse with the apical cell… 
Highly Cited
1987
Highly Cited
1987
Trunk extensor endurance: determination and relation to low-back trouble.
The strength and endurance of the trunk extensors were studied in relation to the extent of earlier low-back trouble (LBT) in a… 
Highly Cited
1985
Highly Cited
1985
Harlequin fetus successfully treated with etretinate
A harlequin fetus seen at birth was treated with etretinate and more general measures, including careful attention to fluid… 
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