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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...
Na minha lista:
| Main Authors: | , , , , , , , , |
|---|---|
| Formáid: | Artigo |
| Teanga: | Inglês |
| Foilsithe: |
Elsevier
2020-01-01
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| Sraith: | Journal of Advanced Research |
| Rochtain Ar Líne: | http://www.sciencedirect.com/science/article/pii/S209012321930164X |
| Clibeanna: |
Cuir Clib Leis
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