Article
Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletions.
Prenatal diagnosis - 1 Feb 2024
Verscaj Courtney P, Velez-Bartolomei Frances, Bodle Ethan, Chan Katie, Lyons Michael J, Thorson Willa, Tan Wen-Hann, Rodig Nancy, Graham John M, Peron Angela, Quintero-Rivera Fabiola, Zackai Elaine H, Thomas Mary Ann, Stevens Cathy A, Adam Margaret P, Bird Lynne M, Jones Marilyn C, Matalon Dena R
Abstract excerpt
OBJECTIVE: Recurrent deletions involving 17q12 are associated with a variety of clinical phenotypes, including congenital abnormalities of the kidney and urinary tract (CAKUT), maturity onset diabetes of the young, type 5, and neurodevelopmental disorders. Structural and/or functional renal disease is the most common phenotypic feature, although the prenatal renal phenotypes and the postnatal correlates have not...
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