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Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases.
Vegas N, Demir Z, Gordon CT, Breton S, Romanelli Tavares VL, Moisset H, Zechi-Ceide R, Kokitsu-Nakata NM, Kido Y, Marlin S, Gherbi Halem S, Meerschaut I, Callewaert B, Chung B, Revencu N, Lehalle D, Petit F, Propst EJ, Papsin BC, Phillips JH, Jakobsen L, Le Tanno P, Thévenon J, McGaughran J, Gerkes EH, Leoni C, Kroisel P, Tan TY, Henderson A, Terhal P, Basel-Salmon L, Alkindy A, White SM, Passos-Bueno MR, Pingault V, De Pontual L, Amiel J. Vegas N, et al. Among authors: phillips jh. Hum Mutat. 2022 May;43(5):582-594. doi: 10.1002/humu.24349. Epub 2022 Mar 7. Hum Mutat. 2022. PMID: 35170830
Shwachman-Diamond syndrome presenting as hepatosplenomegaly.
Wilschanski M, van der Hoeven E, Phillips J, Shuckett B, Durie P. Wilschanski M, et al. J Pediatr Gastroenterol Nutr. 1994 Jul;19(1):111-3. doi: 10.1097/00005176-199407000-00019. J Pediatr Gastroenterol Nutr. 1994. PMID: 7965460 No abstract available.
422 results