Related Experiment Video

Updated: Jul 27, 2026

Utility of Dissociated Intrinsic Hand Muscle Atrophy in the Diagnosis of Amyotrophic Lateral Sclerosis
08:16

Utility of Dissociated Intrinsic Hand Muscle Atrophy in the Diagnosis of Amyotrophic Lateral Sclerosis

Published on: March 4, 2014

Ophthalmo-acromelic syndrome (Waardenburg) with split hand and polydactyly

A Mégarbané1, N Souraty, J Tamraz

  • 1Unité de Génétique Médicale, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon.

Genetic Counseling (Geneva, Switzerland)
|October 20, 1998
PubMed

More Related Videos

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts07:50

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts

Published on: September 20, 2018

Related Concept Videos

Genetic Lingo01:11

Genetic Lingo

Overview
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,...
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...
Visual Agnosia01:12

Visual Agnosia

Visual agnosia is a condition characterized by the inability to recognize visually presented objects despite having normal vision. For instance, a person with visual agnosia can describe the shape and color of an object but cannot identify or name it. This impairment does not affect their visual field, acuity, color vision, brightness discrimination, language, or memory. An example of this condition in a social setting is someone at a dinner party asking for "that silver thing with a round end"...
Prosopagnosia01:24

Prosopagnosia

Prosopagnosia, also known as face blindness, is the inability to recognize faces. In severe cases, individuals with prosopagnosia may not recognize close family members, including parents and spouses, by their faces. For instance, someone with prosopagnosia might walk past their child in a crowd, only realizing their mistake upon noticing their child's distinctive backpack or favorite jacket. Prosopagnosia specifically impairs facial recognition, while the recognition of other objects or...