Possible biallelic inheritance in TIE1 in a family with congenital lymphedema, intestinal lymphangiectasia and cutis aplasia.

Aasem Abu ShtayaRivka Sukenik HalevyLily BazakGabriel Arie LidzbarskyClaudia Gonzaga-JaureguiIrina LagovskyYael GoldbergLina Basel-Salmon

Published in: Clinical genetics (2023)

A short report of two male siblings born with cutis aplasia, lymphedema and intestinal lymphangiectasia, one found to carry bi-allelic variants in the TIE1 gene known to be associated with congenital lymphedema.

Keyphrases

copy number
intellectual disability
mitochondrial dna
genome wide
autism spectrum disorder
gene expression
dna methylation
preterm infants
genome wide identification
transcription factor