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Case Report: A Paternal 20q13.2-q13.32 Deletion Patient With Growth Retardation Improved by Growth Hormone
Interstitial chromosome 20q deletions, containing GNAS imprinted locus, are rarely reported in the past. Hereby, we presented a Chinese boy with a novel 4.36 Mb deletion at paternal 20q13.2-13.32, showing feeding difficulty, malnutrition, short stature, lower limb asymmetry, sightly abnormal facial...
| Autores principales: | , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8987769/ https://www.ncbi.nlm.nih.gov/pubmed/35401665 http://dx.doi.org/10.3389/fgene.2022.859185 |