Clinical and genetic analysis of trichohepatoneurodevelopmental syndrome caused by a CCDC47 variant

Clinical and genetic analysis of trichohepatoneurodevelopmental syndrome caused by a CCDC47 variant

Trichohepatoneurodevelopmental syndrome is an extremely uncommon autosomal recessive disorder resulting from variants in the CCDC47 gene, which encodes a Ca2+-binding endoplasmic reticulum (ER) transmembrane protein. To date, only four patients with CCDC47 deficiency have been reported, all of them...

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Bibliographic Details
Main Authors: Qi Yang, Xunzhao Zhou, Yeying Ling, Qiang Zhang, Shang Yi, Qiuli Chen, Shujie Zhang, Zailong Qin, Jingsi Luo
Format: Article
Language:English
Published: Elsevier 2024-03-01
Series:Heliyon
Subjects:
Trichohepatoneurodevelopmental syndrome
CCDC47
Whole exome sequencing
Novel variant
Online Access:http://www.sciencedirect.com/science/article/pii/S2405844024039860

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http://www.sciencedirect.com/science/article/pii/S2405844024039860

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