A child with multiple café au lait macules: Rare presentation of plexiform neurofibromatosis with facial dysmorphism, alopecia, proptosis, stridor, and limb length discrepancy

by Aniruddha Ghosh, Payel Kundu, Sandipan Dhar, Arunaloke Bhattacharya
Published 2018-01-01

Segmental giant café au lait macule in neurofibromatosis 1

by Bhagyashree B Supekar, Kinjal D Rambhia, Jayesh I Mukhi, Rajesh P Singh
Published 2018-01-01

Diagnostic challenges in a CMMRD patient with a novel mutation in the PMS2 gene: a case report

by Shiqing Tan, Xiaoting Wu, Aoxue Wang, Li Ying
Published 2021-07-01

Facial Plexiform neurofibromatosis in a patient with neurofibromatosis type1: a case report

by Iffat Hassan, Abid Keen, Parvaiz A. Shah
Published 2012-01-01

comment: Facial Plexiform neurofibromatosis in a patient with neurofibromatosis type1: a case report

by Daisuke Tsuruta, Takashi Hashimoto
Published 2012-01-01

Genome‐wide association study of café‐au‐lait macule number in neurofibromatosis type 1

by Heejong Sung, Paula L. Hyland, Alexander Pemov, Jeremy A. Sabourin, Andrea M. Baldwin, Sara Bass, Kedest Teshome, Wen Luo, Frederick National Laboratory for Cancer Research, Brigitte C. Widemann, Douglas R. Stewart, Alexander F. Wilson
Published 2020-10-01

Giant plexiform neurofibroma of digital nerves: A case report and review of the literature

by Bharat B Dogra, Ashwani Kandari, Shamshad Ahmed, Rohit Virmani
Published 2016-01-01

Segmental neurofibromatosis: A report of a rare case

by Pratiksha Sonkusale, Sumit Kar, Pooja Bonde, Komal Ramteke
Published 2020-01-01

Cutaneous Findings in Neurofibromatosis Type 1

by Bengisu Ozarslan, Teresa Russo, Giuseppe Argenziano, Claudia Santoro, Vincenzo Piccolo
Published 2021-01-01

Clinical Presentation and Novel Pathogenic Variants among 68 Chinese Neurofibromatosis 1 Children

by Ruen Yao, Tingting Yu, Yufei Xu, Li Yu, Jiwen Wang, Xiumin Wang, Jian Wang, Yiping Shen
Published 2019-10-01

Facial plexiform neurofibroma in a 13-year-old girl with neurofibromatosis-1

by Satya Ranjan Misra, G Maragathavalli, Pavitra Baskaran, Varun Rastogi
Published 2012-01-01

Constitutional mismatch repair deficiency in childhood colorectal cancer harboring a de novo variant in the MSH6 gene: a case report

by Keinosuke Hizuka, Shin-ichiro Hagiwara, Takatoshi Maeyama, Hitoshi Honma, Masanobu Kawai, Kiwamu Akagi, Michiko Yasuhara, Naohiro Tomita, Yuri Etani
Published 2021-02-01

Jaffe-Campanacci syndrome or neurofibromatosis type 1: a case report of phenotypic overlap with detection of NF1 gene mutation in non-ossifying fibroma

by Silvia Vannelli, Raffaele Buganza, Federica Runfola, Ilaria Mussinatto, Antonio Andreacchio, Luisa de Sanctis
Published 2020-05-01

Lisch nodules and iris mammillations in two siblings with familial legius syndrome

by Kaitlyn D. Bixel, Miguel J. Cano, Damon M. Johnson, Benjamin Gomez, Laura V. Lobsinger, Frank E. Valentin, David T. Hsieh, Luis O. Rohena
Published 2020-10-01