| Meier-Gorlin syndrome (ear-patella-short stature syndrome) in an Italian patient: clinical evaluation and analysis of possible candidate genes. | |
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MedLine Citation:
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PMID: 11807867 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We report on an Italian boy with the Meier-Gorlin syndrome (ear-patella-short stature syndrome). This rare autosomal recessive disorder comprises the triad of microtia, absent patellae, and growth retardation with prenatal onset. The patient had also an acute torsion of his left spermatic cord, a condition related to a congenital defect of the tunica vaginalis. Because this syndrome had been suggested as the human equivalent of the short ear mouse [Lacombe et al., 1994: Ann. Genet. 37:184-191], a mutation analysis of the BMP5 gene was performed and found normal. The LMX1B and the SHOX genes were also evaluated considering the absent patellae and short stature, respectively, and were found normal as well. |
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Authors:
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Amnon Cohen; Roberta Mulas; Marco Seri; Alberto Gaiero; Graziella Fichera; Monica Marini; Maria Baffico; Gianni Camera |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: American journal of medical genetics Volume: 107 ISSN: 0148-7299 ISO Abbreviation: Am. J. Med. Genet. Publication Date: 2002 Jan |
Date Detail:
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Created Date: 2002-01-24 Completed Date: 2002-03-06 Revised Date: 2008-11-21 |
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: 48-51 Citation Subset: IM |
Copyright Information:
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Copyright 2001 Wiley-Liss, Inc. |
Affiliation:
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Department of Pediatrics, Saint-Paul Hospital, Savona, Italy. cohen.amnon@mail.sirio.it |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics* Adolescent Basal Cell Nevus Syndrome / genetics* Bone Morphogenetic Protein 5 Bone Morphogenetic Proteins / genetics* Dwarfism / complications, genetics Fetal Growth Retardation / complications, genetics Homeodomain Proteins / genetics* Humans Italy Male Patella / abnormalities Polymorphism, Single-Stranded Conformational Syndrome Transcription Factors |
| Chemical | |
Reg. No./Substance:
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0/BMP5 protein, human; 0/Bmp5 protein, mouse; 0/Bone Morphogenetic Protein 5; 0/Bone Morphogenetic Proteins; 0/Homeodomain Proteins; 0/LIM homeobox transcription factor 1 beta; 0/SHOX protein, human; 0/Transcription Factors |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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