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Related Concept Videos

Pleiotropy01:33

Pleiotropy

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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Pedigree Analysis

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Chromosomal Theory of Inheritance

In 1866, Gregor Mendel published the results of his pea plant breeding experiments, providing evidence for predictable patterns in the inheritance of physical characteristics. The significance of his findings was not immediately recognized. In fact, the existence of genes was unknown at the time. Mendel referred to hereditary units as “factors.”
Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

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.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
Sex-linked Disorders01:43

Sex-linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.

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Related Experiment Video

Updated: Jun 3, 2026

Differentiation, Maintenance, and Analysis of Human Retinal Pigment Epithelium Cells: A Disease-in-a-dish Model for BEST1 Mutations
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Differentiation, Maintenance, and Analysis of Human Retinal Pigment Epithelium Cells: A Disease-in-a-dish Model for BEST1 Mutations

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Dyschromatosis universalis hereditaria: a case report.

Carounanidy Udayashankar1, Amiya Kumar Nath

  • 1Indira Gandhi Medical College and Research Institute, Puducherry, India.

Dermatology Online Journal
|March 9, 2011
PubMed
Summary

Dyschromatosis universalis hereditaria (DUH) is a rare genetic skin disorder. This report details a unique Indian case with extensive skin, nail, hair, and oral mucous membrane involvement, highlighting its varied presentation.

Area of Science:

  • Dermatology
  • Medical Genetics

Background:

  • Dyschromatosis universalis hereditaria (DUH) is an autosomal dominant disorder.
  • Characterized by widespread hypo- and hyperpigmented macules.

Observation:

  • A case report of an Indian patient with DUH.
  • The patient presented with extensive skin involvement affecting the face, palms, and soles.
  • Oral mucous membranes, including the tongue, were also affected.

Findings:

  • The patient exhibited nail changes.
  • Scalp hair involvement and keratosis pilaris were noted.
  • This presentation suggests a broader spectrum of DUH manifestations.

Implications:

  • Highlights the diverse clinical spectrum of Dyschromatosis universalis hereditaria.

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  • Emphasizes the importance of thorough dermatological examination in suspected DUH cases.
  • Contributes to understanding DUH in diverse ethnic populations.