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Genetic disorders

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Research Summary
chemo
Research Summary
FLT3 Inhibitor Plus Chemotherapy Improves Survival in Patients with FLT3-mutated Acute Myeloid Leukemia
05/26/2023

Anthony Calabro, MA

Anthony Calabro, MA
Researchers set out to determine the impact of midostaurin in adult patients with FLT3-mutated acute myeloid leukemia.
05/26/2023
Pediatric Pearls
Young male toddler sleeping.
Pediatric Pearls
Heart Defects Among Boys With Hypospadias
05/21/2023
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...
05/21/2023
Photoclinic
proteus syndrome
Photoclinic
Proteus Syndrome in a Young Adolescent
05/11/2023

Miriam Matthews1 • Laura Rosas, MD2 • Lynnette Mazur, MD, MPH3

Miriam Matthews1 • Laura Rosas, MD2 • Lynnette Mazur, MD, MPH3
On a medical mission trip to Tumbes, Peru, a 13-year-old boy presented with enlargement of his left leg. The father stated that his son’s leg had been progressively enlarging since early infancy. He said...
05/11/2023
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Interactive Features

Pediatric Pearls
Young male toddler sleeping.
Pediatric Pearls
Heart Defects Among Boys With Hypospadias
05/21/2023
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...
05/21/2023
genetics
doctor lab coat
genetics
Pop Quiz: Impacts of Fabry Disease
03/05/2023
Fabry disease affects multiple bodily systems. Do you know which systems are impacted the most?
03/05/2023
management
medical testing
management
Pop Quiz: Autoimmune Polyendocrine Syndrome Type 2 Diagnosis, Management
02/25/2023
02/25/2023
genetics
genetics
Pop Quiz: Ehlers-Danlos Syndrome
09/01/2022
Take our pop quiz to find out the least severe form of Ehlers-Danlos syndrome.
09/01/2022
Pediatrics
Pediatrics
Interactive Quiz: Joint Pain
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

Expert Q&A
William Renthal, MD, PhD
Expert Q&A
The Genetics of Migraine
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
Mingyu Liang, MB, PhD, on the Dark Genome in Hypertension Research
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
Phyllis Speiser, MD, on the Endocrine Society’s Guideline for CAH Due to Steroid 21-Hydroxylase Deficiency
01/22/2020
01/22/2020
Genetics
Marylyn Ritchie, PhD
Genetics
Decoding the Mysteries of Our Genomes
02/02/2018
02/02/2018
Genetics
Alison Goate, DPhil
Genetics
Alison Goate, DPhil, on the Genetics of Alzheimer Disease
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