Literature DB >> 9435410

Four cases of mucosal neuroma syndrome: multiple endocrine neoplasm 2B or not 2B?

C m Gordon1, J A Majzoub, D J Marsh, J B Mulliken, B A Ponder, B G Robinson, C Eng.   

Abstract

Entities:  

Mesh：

Year:  1998        PMID： 9435410     DOI： 10.1210/jcem.83.1.4504

Source DB:  PubMed          Journal:  J Clin Endocrinol Metab        ISSN： 0021-972X            Impact factor:   5.958


× No keyword cloud information.
  3 in total

1.  Multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus: a new syndrome.

Authors:  D Babovic-Vuksanovic; Ludwine Messiaen; Christoph Nagel; Hilde Brems; Bernd Scheithauer; Ellen Denayer; Rong Mao; Raf Sciot; Karen M Janowski; Martin U Schuhmann; Kathleen Claes; Eline Beert; James A Garrity; Robert J Spinner; Anat Stemmer-Rachamimov; Ralitza Gavrilova; Frank Van Calenbergh; Victor Mautner; Eric Legius
Journal:  Eur J Hum Genet       Date:  2012-01-18       Impact factor: 4.246

Review 2.  Multiple endocrine neoplasia 2B syndrome due to codon 918 mutation: clinical manifestation and course in early and late onset disease.

Authors:  Michael Brauckhoff; Oliver Gimm; Carl-Ludwig Weiss; Jörg Ukkat; Carsten Sekulla; Katrin Brauckhoff; Phuong Nguyen Thanh; Henning Dralle
Journal:  World J Surg       Date:  2004-11-04       Impact factor: 3.352

3.  Orofacial overgrowth with peripheral nerve enlargement and perineuriomatous pseudo-onion bulb proliferations is part of the PIK3CA-related overgrowth spectrum.

Authors:  Ioannis G Koutlas; Ana-Lia Anbinder; Rana Alshagroud; Ana Sueli Rodrigues Cavalcante; Mohammed Al Kindi; Molly M Crenshaw; Julie C Sapp; Hannah Kondolf; Marjorie J Lindhurst; Jeffrey N Dudley; Jennifer J Johnston; Elyse Ryan; Keith Rafferty; Arupa Ganguly; Leslie G Biesecker
Journal:  HGG Adv       Date:  2020-08-14
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.