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Authors :
Glenda M, Beaman
Filipa M, Lopes
Aybike, Hofmann
Wolfgang, Roesch
Martin, Promm
Emilia K, Bijlsma
Chirag, Patel
Aykut, Akinci
Berk, Burgu
Jeroen, Knijnenburg
Gladys, Ho
Christina, Aufschlaeger
Sylvia, Dathe
Marie Antoinette, Voelckel
Monika, Cohen
Wyatt W, Yue
Helen M, Stuart
Edward A, Mckenzie
Mark, Elvin
Neil A, Roberts
Adrian S, Woolf
William G, Newman
Source :
Frontiers in genetics. 13
Publication Year :
2022

Abstract

Urofacial (also called Ochoa) syndrome (UFS) is an autosomal recessive congenital disorder of the urinary bladder featuring voiding dysfunction and a grimace upon smiling. Biallelic variants in

Details

ISSN :
16648021
Volume :
13
Database :
OpenAIRE
Journal :
Frontiers in genetics
Accession number :
edsair.pmid..........59ae0b21c94e05f2536463f5a7b0e8bf