Pierpont syndrome due to mutation c.1337A>G in TBL1XR1 gene

Clin Dysmorphol. 2022 Jul 1;31(3):145-148. doi: 10.1097/MCD.0000000000000416. Epub 2022 Feb 14.

Authors

Marketa Tesarova¹, Alice Baxova², Hana Hansikova¹, Lukas Lambert³, Alzbeta Vondrackova¹, Alena Leiska³, Jiri Zeman¹

Affiliations

¹ Department of Paediatrics and Adolescent Medicine.
² Institute of Biology and Medical Genetics.
³ Department of Radiology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.

PMID: 35165208
DOI: 10.1097/MCD.0000000000000416

No abstract available

MeSH terms

Child
Developmental Disabilities* / genetics
Facies
Humans
Lipomatosis* / genetics
Mutation
Receptors, Cytoplasmic and Nuclear / genetics
Repressor Proteins / genetics

Substances

Receptors, Cytoplasmic and Nuclear
Repressor Proteins
TBL1XR1 protein, human

Supplementary concepts

Plantar Lipomatosis, Unusual Facies, and Developmental Delay