Currarino syndrome: a comprehensive genetic review of a rare congenital disorder

GC Dworschak, HM Reutter, M Ludwig - Orphanet journal of rare diseases, 2021 - Springer
Background The triad of a presacral mass, sacral agenesis and an anorectal anomaly
constitutes the rare Currarino syndrome (CS), which is caused by dorsal–ventral patterning …

Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus

US Melo, J Piard, B Fischer-Zirnsak, MK Klever… - Human genetics, 2021 - Springer
During human organogenesis, lung development is a timely and tightly regulated
developmental process under the control of a large number of signaling molecules …

The first case of mosaic MNX1 mutation in an adult female with features of Currarino syndrome

F Romano, P De Marco, M Ognibene… - Birth Defects …, 2021 - Wiley Online Library
Background Currarino syndrome (CS) is a rare genetic condition characterized by the
association of three major clinical signs: anorectal malformation (ARM), sacro‐coccygeal …

[引用][C] Sirenomelia-Mermaids Out of the Sea–Report of 3 Cases from Kerala, India, with Review of Literature

S Daniel, PNU Sumathy, KB Nair, S Sadasivan - 2021