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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
10
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pubmed:dateCreated |
2010-10-7
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pubmed:abstractText |
Mandibuloacral dysplasia (MAD) is an autosomal recessive progeroid disorder associated with type A (partial) or B (generalized) lipodystrophy and is due to mutations in lamin A/C (LMNA) or zinc metalloproteinase (ZMPSTE24) genes.
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pubmed:grant |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:status |
MEDLINE
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pubmed:month |
Oct
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pubmed:issn |
1945-7197
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:volume |
95
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
E192-7
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pubmed:dateRevised |
2011-10-3
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pubmed:meshHeading |
pubmed-meshheading:20631028-Abnormalities, Multiple,
pubmed-meshheading:20631028-Adolescent,
pubmed-meshheading:20631028-Adult,
pubmed-meshheading:20631028-Child,
pubmed-meshheading:20631028-Cryptorchidism,
pubmed-meshheading:20631028-DNA Mutational Analysis,
pubmed-meshheading:20631028-Deafness,
pubmed-meshheading:20631028-Female,
pubmed-meshheading:20631028-Humans,
pubmed-meshheading:20631028-Hypogonadism,
pubmed-meshheading:20631028-Lipodystrophy,
pubmed-meshheading:20631028-Male,
pubmed-meshheading:20631028-Mandible,
pubmed-meshheading:20631028-Middle Aged,
pubmed-meshheading:20631028-Progeria,
pubmed-meshheading:20631028-Syndrome,
pubmed-meshheading:20631028-Young Adult
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pubmed:year |
2010
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pubmed:articleTitle |
A novel syndrome of mandibular hypoplasia, deafness, and progeroid features associated with lipodystrophy, undescended testes, and male hypogonadism.
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pubmed:affiliation |
Division of Nutrition and Metabolic Diseases, University of Texas Southwestern Medical Center at Dallas, Dallas, Texas 75390-8537, USA.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't,
Research Support, N.I.H., Extramural
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