Summary

MedlinePlus is an online health information resource. It is a service of the National Library of Medicine (NLM), the world's largest medical library, which is part of the National Institutes of Health (NIH). To promote the transmission of knowledge, this entry collection contains information about the effects of genetic variation on human health transferred from MedlinePlus.

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TFR2 Gene
Transferrin receptor 2: The TFR2 gene provides instructions for making a protein called transferrin receptor 2. 
  • 384
  • 25 Dec 2020
Topic Review
FOXG1 Syndrome
FOXG1 syndrome is a condition characterized by impaired development and structural brain abnormalities. Affected infants are small at birth, and their heads grow more slowly than normal, leading to an unusually small head size (microcephaly) by early childhood. The condition is associated with a particular pattern of brain malformations that includes a thin or underdeveloped connection between the right and left halves of the brain (a structure called the corpus callosum), reduced folds and grooves (gyri) on the surface of the brain, and a smaller than usual amount of brain tissue known as white matter.
  • 454
  • 25 Dec 2020
Topic Review
FOXL2 Gene
Forkhead box L2
  • 373
  • 25 Dec 2020
Topic Review
TFAP2B Gene
Transcription factor AP-2 beta: The TFAP2B gene provides instructions for making a protein called transcription factor AP-2β.
  • 306
  • 25 Dec 2020
Topic Review
FG Syndrome
FG syndrome is a genetic condition that affects many parts of the body and occurs almost exclusively in males. "FG" represents the surname initials of the first family diagnosed with the disorder.
  • 495
  • 25 Dec 2020
Topic Review
TFAP2A Gene
Transcription factor AP-2 alpha: The TFAP2A gene provides instructions for making a protein called transcription factor AP-2 alpha (AP-2α). 
  • 365
  • 25 Dec 2020
Topic Review
Ewing Sarcoma
Ewing sarcoma is a cancerous tumor that occurs in bones or soft tissues, such as cartilage or nerves. There are several types of Ewing sarcoma, including Ewing sarcoma of bone, extraosseous Ewing sarcoma, peripheral primitive neuroectodermal tumor (pPNET), and Askin tumor. These tumors are considered to be related because they have similar genetic causes. These types of Ewing sarcoma can be distinguished from one another by the tissue in which the tumor develops. Approximately 87 percent of Ewing sarcomas are Ewing sarcoma of bone, which is a bone tumor that usually occurs in the thigh bones (femurs), pelvis, ribs, or shoulder blades. Extraosseous (or extraskeletal) Ewing sarcoma describes tumors in the soft tissues around bones, such as cartilage. pPNETs occur in nerve tissue and can be found in many parts of the body. A type of pPNET found in the chest is called Askin tumor.
  • 367
  • 25 Dec 2020
Topic Review
TET2 Gene
Tet methylcytosine dioxygenase 2: The TET2 gene provides instructions for making a protein whose function is unknown. 
  • 399
  • 25 Dec 2020
Topic Review
Ethylmalonic Encephalopathy
Ethylmalonic encephalopathy is an inherited disorder that affects several body systems, particularly the nervous system.
  • 348
  • 25 Dec 2020
Topic Review
FOXG1 Gene
Forkhead box G1
  • 392
  • 25 Dec 2020
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