Berardinelli-Seip syndrome patient with novel AGPAT2 splicesite mutation and concomitant development of non-diabetic polyneuropathy
Autor: | Alicja Sikora, Mateusz Dawidziuk, Marta Marek, Sylwia Rzonca, Anna Obuchowicz, D. Lys Guilbride, James R. Lupski, Joanna M Oswiecimska, Katarzyna Ziora, Wojciech Wiszniewski, Shalini N. Jhangiani, Tomasz Gambin, Pawel Gawlinski |
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Rok vydání: | 2018 |
Předmět: |
0301 basic medicine
medicine.medical_specialty business.industry Endocrinology Diabetes and Metabolism medicine.disease Gastroenterology 03 medical and health sciences 030104 developmental biology Endocrinology Internal medicine Concomitant Pediatrics Perinatology and Child Health Mutation (genetic algorithm) Berardinelli-Seip syndrome medicine business Polyneuropathy Non diabetic |
Zdroj: | Journal of Clinical Research in Pediatric Endocrinology. |
ISSN: | 1308-5727 |
Databáze: | OpenAIRE |
Externí odkaz: |