Image 2_Haploinsufficiency of ABL1 is associated with dominant isolated omphalocele.jpeg

Image 2_Haploinsufficiency of ABL1 is associated with dominant isolated omphalocele.jpeg

<p>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 domi...

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Bibliographic Details
Main Author: Caroline M. Kolvenbach (15275344) (author)
Other Authors: Öznur Yilmaz (8109716) (author), Filipa M. Lopes (9218759) (author), Jeshurun C. Kalanithy (21993782) (author), Katharina Lemberg (21993785) (author), Vineeta Sharma (14377314) (author), Amar J. Majmundar (4779144) (author), Matthias Geyer (29804) (author), Adrian S. Woolf (9218813) (author), Friedhelm Hildebrandt (257380) (author), Benjamin Odermatt (647608) (author), Heiko Reutter (701370) (author)
Published: 2025
Subjects:
Cell Biology
omphalocele
ABL1
dominant
exome sequencing
haploinsufficiency
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