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X-linked mental retardation and severe short stature with a novel mutation of the KDM5C gene
Many monogenetic disorders of short stature have autosomal recessive/dominant form of inheritance. However, X-linked short stature has not been well recognized. Herein, we report a case of a boy from a family with familial severe short stature and mental retardation, who displayed an X-linked recess...
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| Yayımlandı: | Clin Pediatr Endocrinol |
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| Asıl Yazarlar: | , , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
The Japanese Society for Pediatric Endocrinology
2021
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7783125/ https://ncbi.nlm.nih.gov/pubmed/33446955 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1297/cpe.30.61 |
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