| Situs inversus in a patient with nevoid basal cell carcinoma syndrome: a histogenetic relationship? | |
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MedLine Citation:
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PMID: 21712633 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Nevoid basal cell carcinoma syndrome (NBCCS) is an uncommon autosomal dominant inherited disorder with high penetrance and variable expressivity. It affects multiple organ systems, including the stomatological, skeletal, skin, eye, reproductive, and central nervous systems. It is caused by mutations in the patched tumor suppressor gene, PTCHI, located in the 9q22.3-q31 chromosome. To our knowledge, this is the first report of a patient with unusual radiological features, i. e. dextrocardia and situs inversus totalis, in conjunction with common features including multiple keratocystic odontogenic tumors, bifid ribs, palmar and plantar pits, bridging of the sella turcica and calcification of the falx cerebri. We examined whether these genetic conditions were associated, as both involve ciliary dysfunction. |
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Authors:
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Monika Gupta; Debdutta Das; Amit Mittal; Harkamal Kaur; Aayush Malhotra |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Journal of oral science Volume: 53 ISSN: 1880-4926 ISO Abbreviation: J Oral Sci Publication Date: 2011 Jun |
Date Detail:
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Created Date: 2011-06-29 Completed Date: 2011-11-03 Revised Date: 2012-01-24 |
Medline Journal Info:
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Nlm Unique ID: 9808942 Medline TA: J Oral Sci Country: Japan |
Other Details:
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Languages: eng Pagination: 253-6 Citation Subset: D; IM |
Affiliation:
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Department of Oral and Maxillofacial Surgery, MM College of Dental Sciences and Research, Haryana, India. monikabox@yahoo.com |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Basal Cell Nevus Syndrome / complications*, genetics Calcinosis / complications Cranial Sinuses / pathology Dextrocardia / complications, genetics Dura Mater / pathology Female Foot Deformities, Congenital / complications Hand Deformities, Congenital / complications Humans Odontogenic Tumors / complications Ribs / abnormalities Sella Turcica / abnormalities Situs Inversus / complications*, genetics |
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