SOX9 p.Lys106Glu mutation causes acampomelic campomelic dysplasia: Prenatal and postnatal clinical findings

Am J Med Genet A. 2016 Mar;170(3):781-4. doi: 10.1002/ajmg.a.37466. Epub 2015 Nov 24.

Authors

Egle Preiksaitiene¹, Eglė Benušienė¹, Aušra Matulevičienė¹, Kristina Grigalionienė¹, Algirdas Utkus¹, Vaidutis Kučinskas¹

Affiliation

¹ Department of Human and Medical Genetics, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.

PMID: 26602066
DOI: 10.1002/ajmg.a.37466

No abstract available

Publication types

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

MeSH terms

Amino Acid Substitution*
Campomelic Dysplasia / diagnosis*
Campomelic Dysplasia / genetics*
Campomelic Dysplasia / therapy
Codon*
Exons
Humans
Infant
Infant, Newborn
Mutation*
Phenotype
SOX9 Transcription Factor / genetics*
Ultrasonography, Prenatal

Substances

Codon
SOX9 Transcription Factor