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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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Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
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The Notch signaling pathway is a major intracellular signaling pathway that is highly conserved over a broad spectrum of metazoan species. It stands unique from other intracellular signaling mechanisms in animals because notch protein itself acts as the receptor as well as the primary signaling molecule.
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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Adams-Oliver Syndrome: A Case with Full Expression.

Amir Dehdashtian1, Masoud Dehdashtian1

  • 1Ahvaz Jundishapur University of Medical Sciences , Iran.

Pediatric Reports
|July 20, 2016
PubMed
Summary

Adams-Oliver syndrome (AOS) typically does not shorten lifespan. However, this case highlights that AOS with poor weight gain may impact a patient's longevity.

Area of Science:

  • Genetics and developmental biology
  • Pediatric medicine
  • Clinical case reports

Background:

  • Adams-Oliver syndrome (AOS) is a rare genetic disorder.
  • Characterized by congenital scalp defects and limb abnormalities.
  • Generally considered non-life-threatening without major organ involvement.

Observation:

  • A male infant presented with features of AOS.
  • Included scalp and generalized cutis aplasia, limb hypoplasia, and glaucoma.
  • The infant exhibited poor feeding and abnormal weight gain.

Findings:

  • The case demonstrated AOS without major organ abnormalities.
  • Despite the absence of severe systemic issues, poor weight gain was a significant concern.
  • This contrasts with the general understanding of AOS prognosis.
Keywords:
Adams-Oliver syndromeCutis marmorata telangiectatica congenitalabsence defect of limbsglaucoma

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Implications:

  • This case suggests that poor weight gain in AOS may be a critical factor affecting lifespan.
  • Further research is needed to understand the long-term implications of feeding difficulties in AOS.
  • Highlights the importance of monitoring growth and nutritional status in affected infants.