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

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...

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Bibliographic Details
Main Authors: Nalinee Hemwong, Chureerat Phokaew, Chalurmpon Srichomthong, Siraprapa Tongkobpetch, Khomsak Srilanchakon, Vichit Supornsilchai, Kanya Suphapeetiporn, Thantrira Porntaveetus, Vorasuk Shotelersuk
Format: Article
Language:English
Published: Elsevier 2020-01-01
Series:Journal of Advanced Research
Online Access:http://www.sciencedirect.com/science/article/pii/S209012321930164X

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