| Clericuzio-type poikiloderma with neutropenia syndrome in three sibs with mutations in the C16orf57 gene: delineation of the phenotype. | |
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MedLine Citation:
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PMID: 20734427 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We report on three sibs who have autosomal recessive Clericuzio-type poikiloderma neutropenia (PN) syndrome. Recently, this consanguineous family was reported and shown to be informative in identifying the C16orf57 gene as the causative gene for this syndrome. Here we present the clinical data in detail. PN is a distinct and recognizable entity belonging to the group of poikiloderma syndromes among which Rothmund-Thomson is perhaps the best described and understood. PN is characterized by cutaneous poikiloderma, hyperkeratotic nails, generalized hyperkeratosis on palms and soles, neutropenia, short stature, and recurrent pulmonary infections. In order to delineate the phenotype of this rare genodermatosis, the clinical presentation together with the molecular investigations in our patients are reported and compared to those from the literature. |
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Authors:
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D Concolino; G Roversi; G L Muzzi; S Sestito; E A Colombo; L Volpi; L Larizza; P Strisciuglio |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: American journal of medical genetics. Part A Volume: 152A ISSN: 1552-4833 ISO Abbreviation: Am. J. Med. Genet. A Publication Date: 2010 Oct |
Date Detail:
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Created Date: 2010-09-27 Completed Date: 2010-11-16 Revised Date: 2011-01-10 |
Medline Journal Info:
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Nlm Unique ID: 101235741 Medline TA: Am J Med Genet A Country: United States |
Other Details:
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Languages: eng Pagination: 2588-94 Citation Subset: IM |
Copyright Information:
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Copyright © 2010 Wiley-Liss, Inc. |
Affiliation:
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Dipartimento di Pediatria, Università Magna Graecia, Ospedale Civile A. Pugliese, Catanzaro, Italy. dconcolino@unicz.it |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics* Age of Onset Female Humans Infant Male Mutation Neutropenia / complications, genetics* Nuclear Proteins / genetics Open Reading Frames / genetics* Pedigree Phenotype Rothmund-Thomson Syndrome / genetics* Siblings Skin Diseases / genetics Skin Pigmentation / genetics Syndrome |
| Chemical | |
Reg. No./Substance:
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0/C16orf35 protein, human; 0/Nuclear Proteins |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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