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Congenital pyloric atresia
- ... S, Pfendner E, Uitto J. Epidermolysis bullosa with congenital pyloric atresia: novel mutations in the beta 4 integrin gene ( ...
- ... mutations in the PLEC gene are related to pyloric atresia. More About This Health Condition MedlinePlus Genetics provides information about Congenital myasthenic syndrome More About This Health Condition At ...
- ... bloodstream (hypertriglyceridemia) and diabetes mellitus. Additional features of congenital generalized lipodystrophy type 4 include muscle weakness, delayed development, joint abnormalities, a narrowing of the lower part of the stomach (pyloric stenosis), and severe abnormalities of the heart rhythm ( ...
- ... is associated with muscle weakness, delayed development, joint abnormalities, a narrowing of the lower part of the stomach (pyloric stenosis), and severe arrhythmia that can lead to sudden death. Congenital generalized lipodystrophy has an estimated prevalence of 1 ...
- ... alpha6 integrin mutation in junctional epidermolysis bullosa with congenital ... epidermolysis bullosa with pyloric atresia. J Clin Invest. 1997 Jun 15;99( ...
- ... L, Kim DU, Uitto J. Epidermolysis bullosa with pyloric atresia: novel mutations in the ... bullosa with congenital duodenal atresia. Hum Mol Genet. 1997 May;6( ...
- ... narrowing of the lower part of the stomach (pyloric stenosis) or of the upper part of the ...