Autor: Wen-qi Chen
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Case Report: Whole-exome sequencing revealing a novel PBX1 gene variant in a Chinese family with renal hypoplasia
Background and AimsCongenital Anomalies of the Kidney and Urinary Tract with or without Hearing Loss, Abnormal Ears, or Developmental Delay (CAKUTHED) is an autosomal dominant syndromic form of congenital anomalies of the kidney and urinary tract assoc…