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rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
5
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pubmed:dateCreated |
2007-9-17
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|
pubmed:abstractText |
Familial pure gonadal dysgenesis with 46 XX karyotype and sensorineural deafness constitutes a rare autosomal recessive syndrome described initially by Perrault in 1951. The spectrum of the disease remains undetermined. Families with additional newer findings are regularly reported.
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pubmed:language |
eng
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pubmed:journal |
|
|
pubmed:citationSubset |
IM
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|
pubmed:status |
MEDLINE
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|
pubmed:month |
Oct
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pubmed:issn |
1083-3188
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|
pubmed:author |
|
|
pubmed:issnType |
Print
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|
pubmed:volume |
20
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
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|
pubmed:pagination |
305-8
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pubmed:meshHeading |
pubmed-meshheading:17868898-Abnormalities, Multiple,
pubmed-meshheading:17868898-Adolescent,
pubmed-meshheading:17868898-Adult,
pubmed-meshheading:17868898-Arachnodactyly,
pubmed-meshheading:17868898-Female,
pubmed-meshheading:17868898-Genes, Recessive,
pubmed-meshheading:17868898-Gonadal Dysgenesis, 46,XX,
pubmed-meshheading:17868898-Hearing Loss, Sensorineural,
pubmed-meshheading:17868898-Humans,
pubmed-meshheading:17868898-Marfan Syndrome,
pubmed-meshheading:17868898-Siblings,
pubmed-meshheading:17868898-Syndrome
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pubmed:year |
2007
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|
pubmed:articleTitle |
Perrault syndrome with Marfanoid habitus in two siblings.
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|
pubmed:affiliation |
Department of Endocrinology, Christian Medical College and Hospital, Vellore, India. jjacob@cmcvellore.ac.in
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pubmed:publicationType |
Journal Article,
Case Reports
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