Novel and recurrent COMP gene variants in five Japanese patients with pseudoachondroplasia: skeletal changes from the neonatal to infantile periods

Pseudoachondroplasia (PSACH) is an autosomal dominant skeletal dysplasia caused by pathogenic variants of cartilage oligomeric matrix protein (COMP). Clinical symptoms of PSACH are characterized by growth disturbances after the first year of life. These disturbances lead to severe short stature with...

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Detalles Bibliográficos
Autores principales: Hasegawa, Kosei, Futagawa, Natsuko, Ago, Yuko, Miyahara, Hiroyuki, Harada, Daisuke, Miyazawa, Mari, Yoshimoto, Junko, Baba, Kenji, Moriwake, Tadashi, Tanaka, Hiroyuki, Tsukahara, Hirokazu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society for Pediatric Endocrinology 2023
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10568574/
https://www.ncbi.nlm.nih.gov/pubmed/37842142
http://dx.doi.org/10.1297/cpe.2023-0035

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