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10.1186/1750-1172-9-84 http://scihub22266oqcxt.onion/10.1186/1750-1172-9-84 24927635!4071802!24927635     free     free     free Warning: file_get_contents(https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&id=24927635&cmd=llinks): Failed to open stream: HTTP request failed! 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Pathognomonic oral profile of Enamel Renal Syndrome (ERS) caused by recessive FAM20A mutations |pdf=|usr=}}{{24927635}} gab.com Text Pathognomonic oral profile of Enamel Renal Syndrome (ERS) caused by recessive FAM20A mutations JO: Orphanet J Rare Dis http://www.kidney.de/pget.php?&tw=1&pmid=24927635 #FOAvip Amelogenesis imperfecta (AI) is a genetically and clinically heterogeneous group of inherited dental enamel defects. Commonly described as an isolated trait, it may be observed concomitantly with other orodental and/or systemic features such as nephrocalcinosis in Enamel Renal Syndrome (ERS, MIM#204690), or gingival hyperplasia in Amelogenesis Imperfecta and Gingival Fibromatosis Syndrome (AIGFS, MIM#614253). Patients affected by ERS/AIGFS present a distinctive orodental phenotype consisting of generalized hypoplastic AI affecting both the primary and permanent dentition, delayed tooth eruption, pulp stones, hyperplastic dental follicles, and gingival hyperplasia with variable severity and calcified nodules. Renal exam reveals a nephrocalcinosis which is asymptomatic in children affected by ERS. FAM20A recessive mutations are responsible for both syndromes. We suggest that AIGFS and ERS are in fact descriptions of the same syndrome, but that the kidney phenotype has not always been investigated fully in AIGFS. The aim of this review is to highlight the distinctive and specific orodental features of patients with recessive mutations in FAM20A. We propose ERS to be the preferred term for all the phenotypes arising from recessive FAM20A mutations. A differential diagnosis has to be made with other forms of AI, isolated or syndromic, where only a subset of the clinical signs may be shared. When ERS is suspected, the patient should be assessed by a dentist, nephrologist and clinical geneticist. Confirmed cases require long-term follow-up. Management of the orodental aspects can be extremely challenging and requires the input of multi-disciplinary specialized dental team, especially when there are multiple unerupted teeth. Twit Text FOAVip Pathognomonic oral profile of Enamel Renal Syndrome (ERS) caused by recessive FAM20A mutations ????Orphanet J Rare Dis http://www.kidney.de/pget.php?&tw=1&pmid=24927635 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=24927635 #FOAvip English Wikipedia <ref>{{Cite pmid|24927635}}</ref> Pathognomonic oral profile of Enamel Renal Syndrome (ERS) caused by recessive FAM20A mutations #MMPMID24927635 de la Dure-Molla M; Quentric M; Yamaguti PM; Acevedo AC; Mighell AJ; Vikkula M; Huckert M; Berdal A; Bloch-Zupan A Orphanet J Rare Dis 2014[Jun]; 9 (ä): 84 PMID24927635show ga Amelogenesis imperfecta (AI) is a genetically and clinically heterogeneous group of inherited dental enamel defects. Commonly described as an isolated trait, it may be observed concomitantly with other orodental and/or systemic features such as nephrocalcinosis in Enamel Renal Syndrome (ERS, MIM#204690), or gingival hyperplasia in Amelogenesis Imperfecta and Gingival Fibromatosis Syndrome (AIGFS, MIM#614253). Patients affected by ERS/AIGFS present a distinctive orodental phenotype consisting of generalized hypoplastic AI affecting both the primary and permanent dentition, delayed tooth eruption, pulp stones, hyperplastic dental follicles, and gingival hyperplasia with variable severity and calcified nodules. Renal exam reveals a nephrocalcinosis which is asymptomatic in children affected by ERS. FAM20A recessive mutations are responsible for both syndromes. We suggest that AIGFS and ERS are in fact descriptions of the same syndrome, but that the kidney phenotype has not always been investigated fully in AIGFS. The aim of this review is to highlight the distinctive and specific orodental features of patients with recessive mutations in FAM20A. We propose ERS to be the preferred term for all the phenotypes arising from recessive FAM20A mutations. A differential diagnosis has to be made with other forms of AI, isolated or syndromic, where only a subset of the clinical signs may be shared. When ERS is suspected, the patient should be assessed by a dentist, nephrologist and clinical geneticist. Confirmed cases require long-term follow-up. Management of the orodental aspects can be extremely challenging and requires the input of multi-disciplinary specialized dental team, especially when there are multiple unerupted teeth. |*Genes, Recessive[MESH] |*Mutation[MESH] |Amelogenesis Imperfecta/genetics/*pathology[MESH] |Dental Enamel Proteins/*genetics[MESH] |Humans[MESH] |Nephrocalcinosis/genetics/*pathology[MESH] |Radiography[MESH]Pathognomonic oral profile of Enamel Renal Syndrome (ERS) caused by re(epmc).pdf DeepDyve Pubget Overpricing