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

• Main Authors: Sára Pálla (Author), Pálma Anker (Author), Klára Farkas (Author), Dóra Plázár (Author), Sándor Kiss (Author), Péter Marschalkó (Author), Zsuzsanna Szalai (Author), Judit Bene (Author), Kinga Hadzsiev (Author), Zoltán Maróti (Author), Tibor Kalmár (Author), Márta Medvecz (Author)
• Format: Book
• Published: BMC, 2023-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...