Genetic disorders

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Interactive Features

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Congenital Disorders
Congenital Disorders
10/06/2022
A 2-year-old boy presents with his parents to a pediatric clinic. He had previously been diagnosed with hypospadias. His parents explain that he has been showing symptoms of troubled breathing, excessive...
10/06/2022
genetics
genetics
09/01/2022
Take our pop quiz to find out the least severe form of Ehlers-Danlos syndrome.
09/01/2022
genetics
genetics
07/04/2022
Fabry disease affects multiple bodily systems. Do you know which systems are impacted the most?
07/04/2022
Pediatrics
Pediatrics
04/13/2022
In this new interactive quiz, we present a case of a 4-month-old girl who presents with signs of joint pain and hyperpigmentation of the skin over the joints. Can you take the correct diagnostic steps and...
04/13/2022

Clinical Insights

genetics
genetics
05/03/2022
New research investigated the nervous system cell types in which putative migraine-associated genes are expressed. Lead author William Renthal, MD, PhD, answers our questions about this research.
05/03/2022
genetics
genetics
01/27/2020
Mingyu Liang, MB, PhD, answers our questions about his research into the dark genome’s function in hypertension.
01/27/2020
Adrenal Disorders
Phyllis Speiser, MD
Adrenal Disorders
Genetics
Marylyn Ritchie, PhD
Genetics
Genetics
Genetics
09/18/2015
Alison Goate, DPhil, answered our questions about her research on the role of genetics in Alzheimer disease onset, a topic she will also be presenting at 144th Annual Meeting of the American Neurological...
09/18/2015