Lethal neonatal respiratory failure due to biallelic variants in BBS1 and monoallelic variant in TTC21B

Viehl, L; Wegner, DJ; Hmiel, SP; White, F; Jain, S; Cole, FS; Wambach, JA

Wambach, JA (通讯作者),Washington Univ, Sch Med, Edward Mallinckrodt Dept Pediat, St Louis, MT 63130 USA.;Wambach, JA (通讯作者),St Louis Childrens Hosp, St Louis, MT 63110 USA.

PEDIATRIC NEPHROLOGY, 2023; 38 (2): 605

Abstract

Background Bardet-Biedl syndrome (BBS) is a rare, autosomal recessive ciliopathy characterized by early onset retinal dystrophy, renal anomalies, post......

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