March 2024 in “Frontiers in endocrinology” This study reports the first case of mandibuloacral dysplasia syndrome associated with MTX2 gene mutation in the Chinese population, expanding the known spectrum of MTX2 mutations.
4 citations
,
October 2023 in “Children” This study diagnosed a group of six girls with various ectodermal abnormalities, identifying cranio-skeletal malformations consistent with focal dermal hypoplasia (Goltz syndrome), and found heterozygous mutations in the PORCN gene in two children.
February 2019 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that Prss53-mutated rabbits exhibited curved hair and skeletal dyskinesia, suggesting a link between Prss53 loss and these traits, potentially involving disrupted calcium metabolism.
5 citations
,
October 2003 in “PubMed” This case report describes a 30-year-old male with a late diagnosis of Kallmann's syndrome, highlighting the necessity of hormonal therapy to reduce the risk of osteoporosis and bone fractures despite the patient's acceptance of his physical appearance.
May 2025 in “Birth Defects Research” This study investigated the effects of YWS1903 in pregnant rats and found that high doses led to fetal growth reduction and skeletal malformations, while lower doses did not cause significant issues, establishing a no observed adverse effect level at 60 mg/kg.