Co-occurrence of neurofibromatosis type 1 and pseudoachondroplasia – a first case report

Co-occurrence of neurofibromatosis type 1 and pseudoachondroplasia – a first case report

Abstract Background Neurofibromatosis type 1 and pseudoachondroplasia are both rare autosomal dominant disorders, caused by pathogenic mutations in NF1 and COMP genes, respectively. Both neurofibromin 1 and cartilage oligomeric matrix protein (COMP) play a role in the development of the skeleton. Ca...

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Bibliographic Details
Main Authors: Sára Pálla, Pálma Anker, Klára Farkas, Dóra Plázár, Sándor Kiss, Péter Marschalkó, Zsuzsanna Szalai, Judit Bene, Kinga Hadzsiev, Zoltán Maróti, Tibor Kalmár, Márta Medvecz
Format: Article
Language:English
Published: BMC 2023-03-01
Series:BMC Pediatrics
Subjects:
Neurofibromatosis 1
Neurofibromin 1
Pseudoachondroplasia
Cartilage oligomeric matrix protein
Case report
Online Access:https://doi.org/10.1186/s12887-023-03920-7

Internet

https://doi.org/10.1186/s12887-023-03920-7

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