Joint laxity in homozygotes for severe POU1F1 mutations

Am J Med Genet A. 2016 Dec;170(12):3356-3358. doi: 10.1002/ajmg.a.37941. Epub 2016 Aug 19.

Authors

Hanan E Shamseldin¹, Sateesh Maddirevula¹, Amira Nabil², Saeed Al-Fadhil³, Saeed Al Tala³, Fowzan S Alkuraya^{1

4}

Affiliations

¹ Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
² Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt.
³ Department of Pediatrics, Armed Forces Hospitals Southern Region, Khamis Mushayt, Saudi Arabia.
⁴ Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.

PMID: 27541381
DOI: 10.1002/ajmg.a.37941

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Child, Preschool
Female
Homozygote*
Humans
Joint Instability*
Male
Mutation*
Pedigree
Transcription Factor Pit-1 / genetics*

Substances

POU1F1 protein, human
Transcription Factor Pit-1