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Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
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Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
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Genetic Studies of Human DNA Repair Proteins Using Yeast as a Model System
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[Herlyn-Werner-Wunderlich syndrome].

Lotte E C M M van Leerdam1, Catharina C M Beerendonk, Willemijn M Klein

  • 1Radboudumc, Nijmegen.

Nederlands Tijdschrift Voor Geneeskunde
|December 11, 2014
PubMed
Summary
This summary is machine-generated.

Herlyn-Werner-Wunderlich syndrome (HWWS), a rare condition involving uterine didelphys and a blocked hemivagina, can cause acute abdominal pain. Early diagnosis is crucial for patients with a history of renal or anal anomalies.

Area of Science:

  • Reproductive Medicine
  • Pediatric Surgery
  • Medical Imaging

Background:

  • Acute abdominal pain is a common emergency department presentation.

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  • Herlyn-Werner-Wunderlich syndrome (HWWS) is an uncommon cause of abdominal pain.
  • HWWS involves uterine didelphys, obstructed hemivagina, and ipsilateral renal agenesis/dysplasia.