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...

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Detalles Bibliográficos
Autores principales: van Midden, Vesna Marija, Kinsley, Lisa, Fraint, Avram, Krainc, Dimitri, Mencacci, Niccolò E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2022
Materias:
Short Reports
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

Internet

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

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