An Unexpected Cause of Pelvic Pain in a Pubertal Case: Herlyn-Werner-Wunderlich Syndrome
Haseki Tıp Bülteni, 2014 Uterovaginal duplication with imperforated hemivagina is a rare type of Mullerian anomaly. If ipsilateral renal agenesis is associated with this complex genital malformation, it is called Herlyn-Werner-Wunderlich syndrome.
Yasemin Kayadibi +4 more
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Do you know this syndrome? Werner syndrome [PDF]
Anais Brasileiros de Dermatologia, 2017 : Werner syndrome is a rare autosomal recessive disorder, caused by mutations in the WRN gene. Clinical findings include: senile appearance, short stature, grey hair, alopecia, bird-like face, scleroderma-like skin changes, skin ulcers, voice ...
Özlem Bilgiç
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Imaging Diagnosis of Herlyn-Werner-Wunderlich Syndrome- An Extremely Rare Urogenital Anomaly [PDF]
Journal of Clinical and Diagnostic Research, 2015 Herlyn-Werner-Wunderlich (HWW) syndrome is a very rare congenital anomaly of the urogenital tract resulting from maldevelopment of both Mullerian and Wolffian ducts.
SHIBANI MEHRA +4 more
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Arabidopsis RecQl4A suppresses homologous recombination and modulates DNA damage responses [PDF]
, 2005 The DNA damage response and DNA recombination are two interrelated mechanisms involved in maintaining the integrity of the genome, but in plants they are poorly understood.
Bachrati +64 more
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Endocrinology Research and Practice, 2015 Werner syndrome (WS) is a rare autosomal recessive adult-onset progeroid disorder characterized by the early onset of aged-appearance and age-related metabolic disorders.
Berna İmge AYDOĞAN +5 more
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Recurrent skin ulcer cross-repair and sensory reconstruction in a WRN gene mutational patient [PDF]
Anais Brasileiros de Dermatologia, 2018 : A 37-year-old man complained of a refractory posterior malleolar ulceration on his left ankle. He was diagnosed with Werner syndrome according to the progeroid clinical features and genetic testing. To approach the ulceration, a free flow-through right
Jiqiang He +3 more
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Herlyn-Werner-Wunderlich syndrome: A case report in a young woman, with literature review
Radiology Case Reports, 2022 Herlyn-Werner-Wunderlich syndrome is a rare complex congenital disorder, with combined Müllerian and mesonephric duct anomalies, presenting with uterus didelphys, unilateral blind hemivagina and ipsilateral renal agenesis. Hemivaginal obstruction usually
Eduardo Negrão, MD +4 more
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Ccdc11 is a novel centriolar satellite protein essential for ciliogenesis and establishment of left-right asymmetry [PDF]
, 2016 The establishment of left–right (L-R) asymmetry in vertebrates is dependent on the sensory and motile functions of cilia during embryogenesis. Mutations in CCDC11 disrupt L-R asymmetry and cause congenital heart disease in humans, yet the molecular and ...
Betleja, Ewelina +8 more
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Cerebral Haemorrhage in a Young Patient With Atypical Werner Syndrome Due to Mutations in LMNA
Frontiers in Endocrinology, 2018 Introduction: Werner syndrome is a rare genetic disorder; classical Werner syndrome is caused by mutations in the WRN gene. However, recent research has shown that LMNA gene mutations can also cause premature ageing syndromes such as atypical Werner ...
Xiao Yanhua, Xiao Yanhua, Zhou Suxian
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Serum thyroid hormone antibodies are frequent in patients with polyglandular autoimmune syndrome type 3, particularly in those who require thyroxine treatment [PDF]
, 2017 Polyglandular autoimmune syndrome (PAS) type 3 consists of autoimmune thyroid disease (AITD) coexisting with ≥1 non-thyroidal autoimmune disease (NTAID) other than Addison’s disease and hypoparathyroidism. We evaluated the prevalence and repertoire of
Benvenga, Salvatore +8 more
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