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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Détails bibliographiques
Publié dans:J Adv Res
Auteurs principaux: Hemwong, Nalinee, Phokaew, Chureerat, Srichomthong, Chalurmpon, Tongkobpetch, Siraprapa, Srilanchakon, Khomsak, Supornsilchai, Vichit, Suphapeetiporn, Kanya, Porntaveetus, Thantrira, Shotelersuk, Vorasuk
Format: Artigo
Langue:Inglês
Publié: Elsevier 2019
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Original Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC7015471/
https://ncbi.nlm.nih.gov/pubmed/32071780
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jare.2019.10.006
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