Article
Identification of novel homozygous nonsense SLC10A7 variant causing short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis and surgical management of spine.
Orphanet journal of rare diseases - 30 Nov 2023
Zhang Wenyan, Yao Ziming, Guo Ruolan, Cao Jun, Li Wei, Hao Chanjuan, Zhang Xuejun
Abstract excerpt
BACKGROUND: Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis is a rare, autosomal recessive, skeletal disorder first described in 2018. This syndrome starts with pre- and postnatal developmental delay, and gradually presents with variable facial dysmorphisms, a short stature, amelogenesis imperfecta, and progressive skeletal dysplasia affecting the limbs, joints, hands, feet, and...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.