Intermediate Phenotype between ADULT Syndrome and EEC Syndrome Caused by R243Q Mutation in TP63
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چکیده
منابع مشابه
Intermediate Phenotype between ADULT Syndrome and EEC Syndrome Caused by R243Q Mutation in TP63
A patient who had ectrodactyly, dry skin, exfoliative dermatitis, and hypodontia with peg-shaped teeth, but not cleft lip and palate, is described. Ectrodactyly with a tooth anomaly is recognized in both acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome and ectrodactyly-ectodermal dysplasia-cleft (EEC) syndrome. These 2 syndromes are caused by heterozygous mutations in the transcriptional fac...
متن کاملAnalysis of Large Phenotypic Variability of EEC and SHFM4 Syndromes Caused by K193E Mutation of the TP63 Gene
EEC (ectrodactyly, ectodermal dysplasia, clefting; OMIM 604292) is an autosomal dominant developmental disorder resulting mainly from pathogenic mutations of the DNA-binding domain (DBD) of the TP63 gene. In this study, we showed that K193E mutation in nine affected individuals of a four-generation kindred with a large degree of phenotypic variability causes four different syndromes or TP63-rel...
متن کاملUnusual adult-onset manifestation of an attenuated Bartter's syndrome type IV renal phenotype caused by a mutation in BSND.
Watkins PJ. Anemia with erythropoietin deficiency occurs early in diabetic nephropathy. Diabetes Care 2001; 24: 495–499 2. Inomata S, Itoh M, Imai H, Sato T. Serum levels of erythropoietin as a novel marker reflecting the severity of diabetic nephropathy. Nephron 1997; 75: 426–430 3. Bachmann S, Le Hir M, Eckardt KU. Co-localization of erythropoietin mRNA and ecto-5-nucleotidase immunoreactivit...
متن کاملA novel c.1037C > G (p.Ala346Gly) mutation in TP63 as cause of the ectrodactyly-ectodermal dysplasia and cleft lip/palate (EEC) syndrome
Ectrodactyly - ectodermal dysplasia and cleft lip/palate (EEC) syndrome (OMIM 604292) is a rare disorder determined by mutations in the TP63 gene. Most cases of EEC syndrome are associated to mutations in the DNA binding domain (DBD) region of the p63 protein. Here we report on a three-generation Brazilian family with three individuals (mother, son and grandfather) affected by EEC syndrome, det...
متن کاملEEC syndrome: A rare entity
Ectrodactyly, Ectodermal dysplasia and Cleft lip/palate (EEC) syndrome is a rare combination of multiple congenital anomalies. Although the anomalies are diverse, the underlying problem arise from early embryonic ectodermal tissue defects or insults. We report a case of a baby boy who was born at 33 weeks of gestation with EEC syndrome. He died five months later of aspiration pneumonia. The man...
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ژورنال
عنوان ژورنال: Plastic and Reconstructive Surgery - Global Open
سال: 2016
ISSN: 2169-7574
DOI: 10.1097/gox.0000000000001185