Compound Heterozygous Variants in a Surviving Patient With Alkuraya-Kučinskas Syndrome: A New Case Report and a Review of the Literature

BACKGROUND: Alkuraya–Kučinskas syndrome is an autosomal recessive disorder characterized by brain abnormalities associated with cerebral parenchymal underdevelopment, arthrogryposis, club foot, and global developmental delay. Most reported cases were cases of premature termination of pregnancies or...

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Detalles Bibliográficos
Autores principales: Yue, Ling, Jin, Mei, Wang, Xin, Wang, Jing, Chen, Ling, Jia, Rong, Yang, Zuozhen, Yang, Fan, Li, Jingman, Chen, Cuiying, Zheng, Huacheng, Yang, Huafang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8931281/
https://www.ncbi.nlm.nih.gov/pubmed/35311058
http://dx.doi.org/10.3389/fped.2022.806752

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8931281/
https://www.ncbi.nlm.nih.gov/pubmed/35311058
http://dx.doi.org/10.3389/fped.2022.806752

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