| Variable penetrance of hypogonadism in a sibship with Kallmann syndrome due to a deletion of the KAL gene. | |
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MedLine Citation:
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PMID: 7677154 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We report on the clinical and molecular characterization of 3 sibs with X-linked ichthyosis and variable expression of Kallmann syndrome. One of the affected brothers had mild hyposmia and showed normal pubertal progression. However, we demonstrated the same partial deletion of the X-linked Kallmann gene, sparing the first exon in the mildly affected patient as well as in one of his severely affected brothers. |
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Authors:
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G Parenti; M G Rizzolo; M Ghezzi; S Di Maio; M P Sperandeo; B Incerti; B Franco; A Ballabio; G Andria |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. |
Journal Detail:
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Title: American journal of medical genetics Volume: 57 ISSN: 0148-7299 ISO Abbreviation: Am. J. Med. Genet. Publication Date: 1995 Jul |
Date Detail:
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Created Date: 1995-10-19 Completed Date: 1995-10-19 Revised Date: 2012-02-27 |
Medline Journal Info:
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Nlm Unique ID: 7708900 Medline TA: Am J Med Genet Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 476-8 Citation Subset: IM |
Affiliation:
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Department of Pediatrics, Federico II University, Naples, Italy. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Adult Base Sequence Child DNA Primers Exons Gene Deletion* Genetic Linkage Humans Hypogonadism / genetics* Kallmann Syndrome / genetics* Male Molecular Sequence Data Nuclear Family Phenotype Polymerase Chain Reaction X Chromosome |
| Grant Support | |
ID/Acronym/Agency:
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HD24064/HD/NICHD NIH HHS; TGM06S01//Telethon |
| Chemical | |
Reg. No./Substance:
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0/DNA Primers |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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