Atypical Sotos syndrome caused by a novel splice site variant

Morphometric Analysis of the Lateral Atlantoaxial Joints in Patients with an Old Type II Odontoid Fracture and Atlantoaxial Dislocation

(2020) Fei Ma et al.   SPINE

Genotype–phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing

(2019) Mark N. Ziats et al.   PEDIATRIC RESEARCH

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

The revised Ghent nosology for the Marfan syndrome

(2010) B. L. Loeys et al.   JOURNAL OF MEDICAL GENETICS

A Clinical Study of Sotos Syndrome Patients With Review of the Literature

(2009) George Leventopoulos et al.   PEDIATRIC NEUROLOGY

Skin extensibility and consistency in patients with Ehlers–Danlos syndrome and benign joint hypermobility syndrome

(2009) L. Remvig et al.   SCANDINAVIAN JOURNAL OF RHEUMATOLOGY