Article
A rare cause of syndromic short stature: 3M syndrome in three families.
American journal of medical genetics. Part A - 1 Feb 2021
Isik Esra, Arican Duygu, Atik Tahir, Ooi Joo Enn, Darcan Sukran, Ozen Samim, Simsek Kiper Pelin Ozlem, Utine Eda, Cogulu Ozgur, Ozkinay Ferda
Abstract excerpt
3M syndrome is a rare autosomal recessive genetic disorder characterized by severe growth retardation, dysmorphic facial features, skeletal dysplasia, and normal intelligence. Variants in CUL7, OBSL1, and CCDC8 genes have been reported to be responsible for this syndrome. In this study, the clinical and molecular findings of four 3M syndrome cases from three families are presented. All cases had growth...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.