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Valtter B Virtanen, Eero Pukkala, Reetta Kivisaari, Perttu P Salo, Antti Koivusalo, Johanna Arola, Päivi J Miettinen, Risto J Rintala, Markus Perola and Mikko P Pakarinen

Introduction Hirschsprung disease (HD) is a congenital malformation characterized by absence of ganglion cells in the myenteric and submucosal plexuses of the distal intestine ( Martucciello et al . 2000 ). It is thought to be caused by disordered

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Andreas Machens, Steffen Hauptmann and Henning Dralle

) consisting of: a gain-of-function MEN 2A phenotype through constitutive RET receptor activation; and a loss-of-function Hirschsprung's disease (HSCR) phenotype through trapping of precursor RET proteins in the endoplasmatic reticulum, precluding their

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Rodrigo A Toledo, Roxanne Hatakana, Delmar M Lourenço Jr, Susan C Lindsey, Cleber P Camacho, Marcio Almeida, José V Lima Jr, Tomoko Sekiya, Elena Garralda, Michel S Naslavsky, Guilherme L Yamamoto, Monize Lazar, Osorio Meirelles, Tiago J P Sobreira, Maria Lucia Lebrao, Yeda A O Duarte, John Blangero, Mayana Zatz, Janete M Cerutti, Rui M B Maciel and Sergio P A Toledo

Hirschsprung's disease (HSCR) ( Seri et al . 1997 ). HSCR is a genetically heterogeneous disorder, and inactivation (nonsense and frameshift) mutations in RET are its primary cause ( Edery et al . 1994 ). In families harbouring activating RET mutations

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Maria Grazia Borrello, Antonella Aiello, Bernard Peissel, Maria Grazia Rizzetti, Piera Mondellini, Debora Degl'Innocenti, Veronica Catalano, Morena Gobbo, Paola Collini, Italia Bongarzone, Marco A Pierotti, Angela Greco and Ettore Seregni

polymorphisms have been shown to be under-represented in Hirschsprung's disease (HSCR, OMIM 142623) patients compared with controls, thus suggesting that they might protect against the development of HSCR ( Borrego et al . 1999 ). The RET -G691S polymorphism

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Débora R Siqueira, Mírian Romitti, Andreia P da Rocha, Lucieli Ceolin, Camila Meotti, Aline Estivalet, Marcia K Puñales and Ana Luiza Maia

, and information on atypical features noted, such as Hirschsprung's disease (HIRS) or cutaneous lichen amyloidosis (CLA). Patients underwent a complete clinical examination, laboratory tests (levels of basal calcitonin (Until December 2003, Calcitonin

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Daniela Cordella, Marina Muzza, Luisella Alberti, Paolo Colombo, Pietro Travaglini, Paolo Beck-Peccoz, Laura Fugazzola and Luca Persani

-oncogene have been associated with several inherited and non-inherited diseases. Inactivating mutations cause familial and sporadic Hirschsprung disease (OMIM*142623), a syndrome of congenital absence of enteric innervation ( Romeo et al. 1994 ). Germline

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Frederic Castinetti, Jeffrey Moley, Lois Mulligan and Steven G Waguespack

Pheochromocytoma Primary hyperpara-thyroidism Other extra-endocrine signs MEN2A 90–100% 0–50% (risk depends on genotype) 0–20% (risk depends on genotype) <5% (Hirschsprung disease, Cutaneous lichen amyloidosis) MEN2B (M918T, A883F

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B Cosci, A Vivaldi, C Romei, F Gemignani, S Landi, R Ciampi, A Tacito, E Molinaro, L Agate, V Bottici, V Cappagli, D Viola, P Piaggi, P Vitti, A Pinchera and R Elisei

clinically silent. Importantly, the T338I mutation has been previously described in Hirschsprung disease ( Fitze et al . 2002 ), which does not belongs to the clinical history of either our patient or her family members, including those harbouring the same

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Marta Kaczmarek-Ryś, Katarzyna Ziemnicka, Andrzej Pławski, Bartłomiej Budny, Michał Michalak, Szymon Hryhorowicz, Justyna Hoppe-Gołębiewska, Paweł Boruń, Monika Gołąb, Małgorzata Czetwertyńska, Maria Sromek, Marlena Szalata, Marek Ruchała and Ryszard Słomski

-9163.2004.00172.x 14984475 Borrego S Sáez ME Ruiz A Gimm O López-Alonso M Antiñolo G Eng C 1999 Specific polymorphisms in the RET proto-oncogene are over-represented in patients with Hirschsprung disease and may represent loci modifying phenotypic expression

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Serisha Moodley, Frank Weber and Lois M Mulligan

RET-targeted therapies, and preclinical and early clinical trials of RET inhibition in these contexts are already underway ( Redaelli et al. 2018 ). RET loss of function mutations are found in familial forms of Hirschsprung disease, a congenital