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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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In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
X-linked Traits01:19

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Accessory Structures of the Skin: Hair and Hair Follicles01:16

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Hair and hair follicles are integral components of the integumentary system. Hair is a filamentous structure composed mainly of a protein called keratin. It is found on the surface of the skin throughout the body, except for areas such as the palms of the hands and soles of the feet.
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Related Experiment Video

Updated: Jun 29, 2026

Flat Mount Imaging of Mouse Skin and Its Application to the Analysis of Hair Follicle Patterning and Sensory Axon Morphology
13:58

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Marie Unna hereditary hypotrichosis.

G Argenziano1, E Sammarco, A Rossi

  • 1Department of Dermatology, Federico II University of Naples, via Pansini 5, 8013 Napoli, Italy. argenziano@tin.it

European Journal of Dermatology : EJD
|August 28, 1999
PubMed
Summary
This summary is machine-generated.

Marie Unna hypotrichosis is a rare genetic condition causing sparse hair from birth. This study details a large Italian family affected by this autosomal dominant pilar dysplasia, characterized by hair shaft abnormalities.

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Area of Science:

  • Genetics
  • Dermatology
  • Molecular Biology

Background:

  • Hereditary congenital hypotrichosis, specifically Marie Unna hypotrichosis, is an autosomal dominant pilar dysplasia.
  • This condition is characterized by a diffuse hair defect, often presenting as an isolated phenomenon.

Observation:

  • Ultrastructural examination of affected hair shafts reveals characteristic abnormalities.
  • These abnormalities include both torsion and longitudinal grooving of the hair shaft.

Findings:

  • A significant pedigree of Marie Unna hypotrichosis was identified in an extended Italian family.
  • The pedigree spans 6 generations and includes 20 affected individuals.

Implications:

  • This detailed pedigree provides valuable data for understanding the inheritance patterns of Marie Unna hypotrichosis.
  • Further research into the genetic basis of this pilar dysplasia can inform diagnostic and therapeutic strategies.