| The Börjeson-Forssman-Lehmann syndrome. | |
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MedLine Citation:
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PMID: 6683929 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Recently we evaluated a Saudi Arabian family in which a severely affected male and a more mildly affected set of monozygotic (MZ) female twins had manifestations of the Börjeson-Forssman-Lehmann syndrome including short stature, hypotonia, mental deficiency, coarse facial appearance with a prominent brow-ridge, and large ears. We present clinical, radiographic, electroencephalographic, and endocrinologic data to further delineate this condition and set forth the manifestations of two normal, presumably heterozygous, females. |
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Authors:
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L K Robinson; K L Jones; F Culler; W L Nyhan; N Sakati; K L Jones |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: American journal of medical genetics Volume: 15 ISSN: 0148-7299 ISO Abbreviation: Am. J. Med. Genet. Publication Date: 1983 Jul |
Date Detail:
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Created Date: 1983-09-23 Completed Date: 1983-09-23 Revised Date: 2004-11-17 |
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: 457-68 Citation Subset: IM |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics,
pathology* Adolescent Adrenal Glands / physiopathology Adult Female Gonadal Steroid Hormones / physiology Humans Male Pedigree Pituitary Hormones, Anterior / secretion Pregnancy Syndrome Twins, Monozygotic |
| Chemical | |
Reg. No./Substance:
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0/Gonadal Steroid Hormones; 0/Pituitary Hormones, Anterior |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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