Showing results 5 to 7 of 7
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Title | Author(s) | Issue Date | Views | |
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A report of three families with FBN1- related acromelic dysplasias and review of literature for genotype-phenotype correlation in gelophysic dysplasia Journal:European Journal of Medical Genetics | 2018 | 81 | ||
A girl with multiple epiphyseal dysplasia due to novel C.955G >T mutation in the cartilage oligomeric matrix protein Proceeding/Conference:2nd Joint Annual Research & Scientific Meeting 2018 of the Hong Kong Paediatric Society, Hong Kong College of Paediatricians, Hong Kong Paediatric Nurses Association and Hong Kong College of Paediatric Nursing | 2018 | 28 | ||
A case of pituitary stalk interruption syndrome caused by mutation in robo1 gene presenting with early onset growth failure Proceeding/Conference:2nd Joint Annual Research & Scientific Meeting 2018 of the Hong Kong Paediatric Society, Hong Kong College of Paediatricians, Hong Kong Paediatric Nurses Association and Hong Kong College of Paediatric Nursing | 2018 | 53 |