|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:dateCreated |
2011-3-7
|
|
pubmed:abstractText |
Lipoid proteinosis is a rare autosomal recessive disease characterized by cutaneous and mucosal lesions and hoarseness appearing in early childhood. It is caused by homozygous or compound heterozygous mutations in the ECM1 gene. The disease is largely uncharacterized in Arab population and the mutation(s) spectrum in the Arab population is largely unknown. We report the neurologic and neuroradiologic characteristics and ECM1 gene mutations of seven individuals with lipoid proteinosis (LP) from three unrelated consanguineous families.
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:issn |
1471-2350
|
|
pubmed:author |
pubmed-author:Abu-AmeroKhaled KKK,
pubmed-author:Al-FakyYasser HYH,
pubmed-author:AlSuhaibaniAdel HAH,
pubmed-author:AlorainyIbrahim AIA,
pubmed-author:AlrasheedSalehS,
pubmed-author:BosleyThomas MTM,
pubmed-author:JobLL,
pubmed-author:McGrathJohn AJA,
pubmed-author:OystreckDarren TDT,
pubmed-author:SalihMustafa AMA,
pubmed-author:Van MaldergemLionelL
|
|
pubmed:issnType |
Electronic
|
|
pubmed:volume |
12
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
31
|
|
pubmed:dateRevised |
2011-11-17
|
|
pubmed:meshHeading |
pubmed-meshheading:21349189-Adolescent,
pubmed-meshheading:21349189-Amino Acid Substitution,
pubmed-meshheading:21349189-Base Sequence,
pubmed-meshheading:21349189-Brain,
pubmed-meshheading:21349189-Child,
pubmed-meshheading:21349189-Child, Preschool,
pubmed-meshheading:21349189-Consanguinity,
pubmed-meshheading:21349189-DNA Mutational Analysis,
pubmed-meshheading:21349189-Extracellular Matrix Proteins,
pubmed-meshheading:21349189-Female,
pubmed-meshheading:21349189-Humans,
pubmed-meshheading:21349189-Intellectual Disability,
pubmed-meshheading:21349189-Lipoid Proteinosis of Urbach and Wiethe,
pubmed-meshheading:21349189-Male,
pubmed-meshheading:21349189-Mutation,
pubmed-meshheading:21349189-Mutation, Missense,
pubmed-meshheading:21349189-Pedigree,
pubmed-meshheading:21349189-Saudi Arabia,
pubmed-meshheading:21349189-Sequence Deletion,
pubmed-meshheading:21349189-Young Adult
|
|
pubmed:year |
2011
|
|
pubmed:articleTitle |
Molecular and neurological characterizations of three Saudi families with lipoid proteinosis.
|
|
pubmed:affiliation |
Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
|
|
pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|
