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Cutis Laxa, Autosomal Recessive, Type IIA

Known as: Cutis Laxa With Bone Dystrophy, Cutis Laxa With Joint Laxity And Retarded Development, Cutis Laxa, Debre Type 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

2009-2017
01220092017

Related topics

Related topics

18 relations
Autosomal recessive inheritanceByzanthine arch palateCutis LaxaDandy-Walker Syndrome
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Related mentions per year

Related mentions per year

1936-2018
19401960198020002020
Cutis Laxa, Autosomal Recessive, Type IIA
Seizures
Dental caries
Autosomal recessive inheritance
Mental Retardation
Myopia

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
[Clinical and genetic analysis of a patient with cutis laxa].
OBJECTIVE To identify potential mutation in a patient with cutis laxa through exome sequencing of genetic disease-related genes… (More)
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Review
2017
Review
2017
Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica
Cutis laxa is a heterogeneous condition characterized by redundant, sagging, inelastic, and wrinkled skin. The inherited forms of… (More)
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2017
2017
Expanding the phenotype of metabolic cutis laxa with an additional disorder of N-linked protein glycosylation
Genetic syndromes associated with cutis laxa (CL) and wrinkled skin are multisystem disorders with progeroid features, including… (More)
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2015
2015
Impaired ATP6V0A2 expression contributes to Golgi dispersion and glycosylation changes in senescent cells
Many genes and signaling pathways have been found to be involved in cellular senescence program. In the present study, we have… (More)
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Review
2014
Review
2014
Autosomal recessive cutis laxa type 2A (ARCL2A) mimicking Ehlers-Danlos syndrome by its dermatological manifestations: report of three affected patients.
Through a survey of more than 20 patients with a specific subgroup of autosomal recessive congenital cutis laxa (ARCL), namely… (More)
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2012
2012
Further characterization of ATP6V0A2-related autosomal recessive cutis laxa
Autosomal recessive cutis laxa (ARCL) syndromes are phenotypically overlapping, but genetically heterogeneous disorders… (More)
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2009
2009
Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2.
Autosomal-recessive cutis laxa type 2 (ARCL2) is a multisystem disorder characterized by the appearance of premature aging… (More)
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