Diaphragmatic paralysis in a neonate with circumferential skin creases Kunze type

BACKGROUND: A range of clinical features have been confirmed with heterozygous mutations in Beta Tubulin (TUBB), including skin creases, facial deformities, abnormal cerebral structures, and intellectual disability, and were defined as Circumferential Skin Creases Kunze type (CSC‐KT). METHODS: Clini...

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Detalles Bibliográficos
Autores principales: Chun Fang, Gao, Kaiwei, Ding, Lingkong, Zeng, Xuwei, Tao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9482402/
https://www.ncbi.nlm.nih.gov/pubmed/35747986
http://dx.doi.org/10.1002/mgg3.2003

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9482402/
https://www.ncbi.nlm.nih.gov/pubmed/35747986
http://dx.doi.org/10.1002/mgg3.2003

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