Compound heterozygous variants in WLS gene causes Zaki syndrome

Biallelic Wnt ligand secretion mediator (WLS gene) variants are associated with Zaki syndrome (OMIM: #619648). Here, we report the first case with Zaki syndrome in the Chinese population. Whole‐exome gene sequencing (WES) identified compound heterozygous variants in the WLS gene (c.1427A > G; p.T...

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Veröffentlicht in:	Clinical genetics 2023-08, Vol.104 (2), p.226-229
Hauptverfasser:	Yu, Cuicui, Wang, Chunli, Zhou, Wei, Zhang, Aihua, Jia, Zhanjun, Zheng, Bixia, Ding, Guixia
Format:	Artikel
Sprache:	eng
Schlagworte:	4‐PBA Adolescent Cryptorchidism Humans Male Phenylbutyric acid Receptors, G-Protein-Coupled - genetics Receptors, G-Protein-Coupled - metabolism Secretion WES WLS Wnt protein Wnt Proteins - genetics WNT3A Zaki syndrome
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