Haploinsufficiency of ABL1 is associated with dominant isolated omphalocele

Haploinsufficiency of ABL1 is associated with dominant isolated omphalocele

Omphalocele is a rare birth defect of the abdominal wall that results in herniation of the visceral organs through the umbilicus. To date, there are no identified genetic causes for non-syndromic isolated omphalocele. Exome sequencing in a four-generation multiplex family with isolated dominant omph...

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Bibliographic Details
Main Authors: Caroline M. Kolvenbach, Öznur Yilmaz, Filipa M. Lopes, Jeshurun C. Kalanithy, Katharina Lemberg, Vineeta Sharma, Amar J. Majmundar, Matthias Geyer, Adrian S. Woolf, Friedhelm Hildebrandt, Benjamin Odermatt, Heiko Reutter
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-08-01
Series:Frontiers in Cell and Developmental Biology
Subjects:
omphalocele
ABL1
dominant
exome sequencing
haploinsufficiency
Online Access:https://www.frontiersin.org/articles/10.3389/fcell.2025.1630894/full
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