The urinary tract comprises the renal pelvis, the ureter, the urinary bladder, and the urethra.
The tract acts as a functional unit, first propelling urine from the kidney to the bladder, then …

DNA repair defects are inborn errors of immunity that result in increased apoptosis and
oncogenesis. DNA Ligase 4-deficient patients suffer from a wide range of clinical …

Mutations in leucine-rich-repeats and immunoglobulin-like-domains 2 (LRIG2) or in
heparanase 2 (HPSE2) cause urofacial syndrome, a devastating autosomal recessive …

Summary The Urofacial or Ochoa Syndrome (UFS or UFOS) is characterized by an inverted
facial expression (those affected seem crying while smiling) associated with lower urinary …

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

DNA repair defects are inborn errors of immunity that result in increased apoptosis and
oncogenesis. DNA Ligase 4-deficient patients suffer from a wide range of clinical …

Abstract Background DNA Ligase IV (LIG4) syndrome is a rare disease with few reports to
date. Patients suffer from a broad spectrum of clinical features, including microcephaly …

The State of Qatar (referred to as “Qatar” in this article) is a sovereign Middle Eastern nation
located on the northeastern coast of the Arabian Peninsula. Qatar borders Saudi Arabia to …

Urofacial syndrome (UFS; also known as Ochoa syndrome) is characterized by prenatal or
childhood onset of urinary bladder voiding dysfunction, abnormal facial movement with …

Background Biallelic mutations in LIG4 encoding DNA-ligase 4 cause a rare
immunodeficiency syndrome manifesting as infant-onset life-threatening and/or …