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Related Concept Videos

Polygenic Traits01:18

Polygenic Traits

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When more than one gene is responsible for a given phenotype, the trait is considered polygenic. Human height is a polygenic trait. Studies have uncovered hundreds of loci that influence height, and there are believed to be many more. Due to the high number of genes involved, as well as environmental and nutritional factors, height varies significantly within a given population. The distribution of height forms a bell-shaped curve, with relatively few individuals in the population at the...
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Nature and Nurture01:10

Nature and Nurture

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Many human characteristics, like height, are shaped by both nature—in other words, by our genes—and by nurture, or our environment. For example, chronic stress during childhood inhibits the production of growth hormones and consequently reduces bone growth and height. Scientists estimate that 70-90% of variation in height is due to genetic differences among individuals, and 10-30% of variation in height is due to differences in the environments that individuals experience,...
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Heritability01:06

Heritability

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Heritability is a statistical concept that measures the degree to which genetic differences among individuals contribute to trait variations within a population. It is a fundamental idea in genetics, often prone to misinterpretation. Heritability is expressed as a percentage, reflecting the proportion of variation in a specific trait across a population that can be linked to genetic differences. However, it's important to understand that heritability does not determine how "genetic"...
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Genetic Variation01:25

Genetic Variation

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Genetic variation is the diversity in DNA sequences found among individuals of the same species. This diversity is crucial for a species' survival because it helps organisms adapt to environmental changes. Genetic variation begins with fertilization, where an egg and sperm cell merge. Each of these cells carries 23 chromosomes, up to 46 in the fertilized egg. Chromosomes are long DNA strands that contain genes, the basic units of heredity.
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Human Genetics01:28

Human Genetics

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Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
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Sex-linked Disorders01:43

Sex-linked Disorders

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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: Jan 7, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Genetic Heterogeneity Underlying Familial Short Stature.

Margot Comel1, Mouna Barat-Houari2, Fanny Alkar1

  • 1Montpellier University, ERN ITHACA, Génétique Clinique, Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Centre Hospitalier Universitaire de Montpellier, Centre de Référence Constitutif des Maladies Osseuses Constitutionnelles, 34295 Montpellier, France.

Diagnostics (Basel, Switzerland)
|December 30, 2025
PubMed
Summary
This summary is machine-generated.

Familial short stature can stem from multiple genetic causes, not just one. This study found three distinct gene variants (SHOX, PDE4D, ACAN) in one family, impacting diagnosis and treatment strategies.

Area of Science:

  • Genetics
  • Pediatrics
  • Skeletal Dysplasias

Background:

  • Familial short stature is a frequent clinical genetics referral.
  • Genetic heterogeneity complicates diagnosis and management of short stature.
Keywords:
ACANPDE4DSHOXacrodysostosisacroscyphodysplasiadyschondrosteosisshort stature

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  • Overlapping phenotypes can arise from distinct genetic variants.