Clinical spectrum and follow-up in six individuals with Lamb-Shaffer syndrome (SOX5)

Am J Med Genet A. 2021 Feb;185(2):608-613. doi: 10.1002/ajmg.a.62001. Epub 2020 Dec 9.

Authors

Affiliations

¹ Medical Genetics Unit, Policlinico di S. Orsola, University of Bologna, Bologna, Italy.
² Oasi Research Institute - IRCCS, Troina, Italy.
³ Department of Public Health and Pediatric Sciences, University of Turin, Turin, Italy.
⁴ Department of Medical Sciences, University of Turin, Turin, Italy.
⁵ Unit of Medical Genetics, "Città della Salute e della Scienza" University Hospital, Turin, Italy.

PMID: 33296143
DOI: 10.1002/ajmg.a.62001

No abstract available

Publication types

Letter
Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Adult
Aged
Child
Child, Preschool
DNA-Binding Proteins / genetics*
Female
Genetic Predisposition to Disease*
Humans
Male
Middle Aged
Neurodevelopmental Disorders / diagnosis
Neurodevelopmental Disorders / genetics*
Neurodevelopmental Disorders / pathology
SOXD Transcription Factors / genetics*

Substances

DNA-Binding Proteins
SOX5 protein, human
SOXD Transcription Factors