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| 1 | Johanson-Blizzard syndrome with mild phenotypic features confirmed by UBR1 gene testing显示文摘Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive condition associated with exocrine pancreatic insufficiency,and is characterized by hypoplastic nasal alae,mental retardation,sensorineural hearing loss,short stature,scalp defects,dental abnormalities and abnormal hair patterns. Growth hormone deficiency,hypopituitarism,and impaired glucagon secretion response to insulin-induced hypoglycemia have been reported. Congenital heart defects have also been described in this condition. Mental retardation is typically moderate to severe in patients with JBS; however,normal intelligence can occur. In the pancreas,there is a selective defect of acinar tissue,whereas the islets of Langerhans and ducts are preserved. Diabetes has been reported in older children,suggesting the progressive nature of pancreatic disease. The molecular basis of JBS has recently been mapped to chromosome 15q15-q21 with identified mutations in the UBR1 gene. We report the case of a 7-year-old female with pancreatic insufficiency and mild phenotypic features,in whom the diagnosis of JBS was established using recently described molecular testing for the UBR1 gene. | Naim Alkhouri Barbara Kaplan Marsha Kay Amy Shealy Carol Crowe Susanne Bauhuber Martin Zenker | 2008 | World Journal of Gastroenterology2008，14，44： | 4 |
| 2 | Pierson syndrome in an adolescent girl with nephrotic range proteinuria but a normal GFR显示文摘 | Anja Lehnhardt Albert Lama Kerstin Amann Verena Matejas Martin Zenker Markus Kemper | 2012 | Pediatric Nephrology2012，，5： | 1 |
| 3 | Variable phenotype of Pierson syndrome显示文摘 | Hyun Jin Choi Beom Hee Lee Ju Hyung Kang Hyoen Joo Jeong Kyung Chul Moon Il Soo Ha Young Suk Yu Verena Matejas Martin Zenker Yong Choi Hae Il Cheong | 2008 | Pediatric Nephrology2008，，6： | 1 |
| 4 | Pancreatic Development and Disease显示文摘 | David A. Cano Matthias Hebrok Martin Zenker | 2007 | Gastroenterology2007，，： | 1 |
| 5 | Johanson-Blizzard syndrome显示文摘Johanson-Blizzard syndrome(JBS) is a rare autosomal recessive disease characterized by exocrine pancreatic insufficiency,hypoplastic or aplastic nasal alae,cutis aplasia on the scalp,and other features including developmental delay,failure to thrive,hearing loss,mental retardation,hypothyroidism,dental abnormalities,and anomalies in cardiac and genitourinary systems.More than 60 cases of this syndrome have been reported to date.We describe the case of a male infant with typical symptoms of JBS.In addition,a new clinical feature which has not previously been documented,that is anemia requiring frequent blood transfusions and mild to moderate thrombocytopenia was observed.A molecular study was performed which revealed a novel homozygous UBR1 mutation.Possible explanations for this new association are discussed. | Nabeel Almashraki Mukarram Zainuddin Abdulnabee Maja Sukalo Abdullah Alrajoudi Iman Sharafadeen Martin Zenker | 2011 | World Journal of Gastroenterology2011，17，37： | 1 |
| 6 | Variable phenotype of Pierson syndrome显示文摘 | Hyun Jin Choi Beom Hee Lee Ju Hyung Kang Hyoen Joo Jeong Kyung Chul Moon Il Soo Ha Young Suk Yu Verena Matejas Martin Zenker Yong Choi Hae Il Cheong | 2008 | Pediatric Nephrology2008，，6： | 1 |
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