Oct 2026· Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics· Vol 43 10, pp.
764-768
· 0 citations
Medicine
TL;DR
The clinical, histopathological, and immunohistochemical findings in the woman with mild conjugated hyperbilirubinemia with normal aminotransferases and cholestatic enzymes supported the diagnosis of DJS, but confirmation of biallelic involvement requires further segregation or phase analysis.
Introduction McLeod syndrome (MLS) is a rare X-linked neuroacanthocytosis caused by pathogenic variants in XK, and is characterized by hyperkinetic movements, peripheral neuropathy and myopathy with hyperCKemia, acanthocytosis and cardiomyopathy. Here, we report a mainland Chinese Han family with McLeod syndrome carryi...
A female infant who presented with persistent jaundice since birth is reported, and bilirubin levels showed progressive decline over time, which may also reflect the spontaneous trend toward resolution that is characteristic of the natural history of DJS.
Li-Jun An, Yuan-Da Zhang, Si-Si Zhang· Frontiers in Endocrinology· 0 citations
Van Maldergem syndrome (VMLDS) is an ultra-rare autosomal recessive disorder characterized by craniofacial dysmorphism, intellectual disability, hypotonia, skeletal anomalies, and feeding difficulties. It is caused by biallelic variants in DCHS1 or FAT4 genes. Fewer than 20 molecularly confirmed cases of VMLDS have bee...
Gabriela Roldão Correia-Costa, Bruna Fagundes Rodrigues Alaite, V. L. Gil-da-Silva-Lopes et al.· American Journal of Medical...· 0 citations
Purpose: To describe the clinical and neuroimaging features of mitochondrial complex III deficiency, nuclear type 8 (MC3DN8), associated with a recurrent leucine tyrosine arginine motif protein 7 ( LYRM7 ) variant, and to place these findings in the context of the existing literature. Methods: We describe three pediatr...
Rafael Inácio, P. Pinto, Guilherme Martins et al.· Annals of Child Neurology· 0 citations
