Zellweger syndrome caused by PEX6 gene variation in 2 cases and literature review

Objective: To summarize the clinical features and genetic characteristics of Zellweger spectrum disorder caused by PEX6 gene variation. Methods: This was a case series research. Clinical date and genetic results of 2 neonatal cases of Zellweger syndrome caused by PEX6 gene variation in Wuhan Childre...

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Publié dans:	Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 62(2024), 1 vom: 02. Jan., Seite 43-48
Auteur principal:	Yang, P (Auteur)
Autres auteurs:	Zeng, C Z, Tao, X W, Rong, S W, Long, Y, Zeng, L K
Format:	Article en ligne
Langue:	Chinese
Publié:	2024
Accès à la collection:	Zhonghua er ke za zhi = Chinese journal of pediatrics
Sujets:	Review Case Reports English Abstract Journal Article PEX6 protein, human EC 3.6.4.- ATPases Associated with Diverse Cellular Activities