[HTML][HTML] Loss of ZC4H2, an Arthrogryposis Multiplex Congenita Associated Gene, Promotes Osteoclastogenesis in Mice
L Zhu, L Zhang, J Cha, C Li, B Mao - Genes, 2024 - mdpi.com
ZC4H2 encodes a C4H2-type zinc finger protein, mutations of which lead to a spectrum of
diseases known as ZC4H2 associated rare disorders (ZARD). In addition to neurological …
diseases known as ZC4H2 associated rare disorders (ZARD). In addition to neurological …
Biallelic variants in RBM42 cause a multisystem disorder with neurological, facial, cardiac, and musculoskeletal involvement
Y Chen, B Yang, XM Zhang, S Chen, M Wang… - Protein & …, 2024 - academic.oup.com
Here, we report a previously unrecognized syndromic neurodevelopmental disorder
associated with biallelic loss-of-function variants in the RBM42 gene. The patient is a 2-year …
associated with biallelic loss-of-function variants in the RBM42 gene. The patient is a 2-year …
Genetics Corner: X-linked ZC4H2-Associated Rare Disorder in a Female with Arthrogryposis Multiplex Congenita.
J Shin, H Bottino, L Wilson - Neonatology Today, 2024 - search.ebscohost.com
The article describes the case of a one-day-old female born at term with arthrogryposis
multiplex congenita evaluated by the Pediatric Genetics service after whole exome …
multiplex congenita evaluated by the Pediatric Genetics service after whole exome …