Medicine
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2 september 2021 10:09:00 |
| Isolated growth hormone deficiency type IA due to a novel GH1 variant: a case report (BMC Medical Genomics) |
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Tweet A case of isolated growth hormone deficiency type IA (IGHD IA) caused by novel compound heterozygous mutation in the GH1 gene was reported in this study, which aimed to provide insights that will benefit future d... |
| 170 viewsCategory: Genomics, Medicine |
 Copy number variations of chromosome 17p11.2 region in children with development delay and in fetuses with abnormal imaging findings (BMC Medical Genomics)Novel pathogenic OCRL mutations and genotype–phenotype analysis of Chinese children affected by oculocerebrorenal syndrome: two cases and a literature review (BMC Medical Genomics) 
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