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Expanding the spectrum of KCNJ6‐related disorders: Milder phenotype with pathological startle responses
Keppen–Lubinsky syndrome is caused by pathogenic variants in KCNJ6, which encodes the inwardly rectifying channel subfamily J6. The four confirmed cases reported to date were characterized by severe intellectual disability, global developmental delay, feeding difficulties, and dysmorphic features. A...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Blackwell Publishing Ltd
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10087234/ https://www.ncbi.nlm.nih.gov/pubmed/36071510 http://dx.doi.org/10.1111/cge.14226 |