A patient with combined pituitary hormone deficiency and osteogenesis imperfecta associated with mutations in LHX4 and COL1A2

Genetic disorders have been shown to co-occur in individual patient. A Thai boy with features of osteogenesis imperfecta (OI) and combined pituitary hormone deficiency (CPHD) was identified. The causative mutations were investigated by whole exome and Sanger sequencing. Pathogenicity and pathomechan...

Descripción completa

Detalles Bibliográficos
Autores principales: Hemwong, Nalinee, Phokaew, Chureerat, Srichomthong, Chalurmpon, Tongkobpetch, Siraprapa, Srilanchakon, Khomsak, Supornsilchai, Vichit, Suphapeetiporn, Kanya, Porntaveetus, Thantrira, Shotelersuk, Vorasuk
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2019
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7015471/
https://www.ncbi.nlm.nih.gov/pubmed/32071780
http://dx.doi.org/10.1016/j.jare.2019.10.006

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7015471/
https://www.ncbi.nlm.nih.gov/pubmed/32071780
http://dx.doi.org/10.1016/j.jare.2019.10.006

Ejemplares similares