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Genetics

Neurofibromatosis type 1 patient benefits from multidisciplinary expertise of care team

September 21, 2021

Little girl smiling in front of a lake

After irregular freckles lead to 4-year-old Jax’s NF1 diagnosis, more than a dozen CHOC specialists teamed up to treat her.

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Genetics Dr. Chenue Abongwa Dr. Neda Zadeh Dr. Rahul Bhola CHOC Specialists

Leveraging technology to help critically ill children with rare diseases

May 27, 2021

Though facing a rare disease, Oliver and his family found a diagnosis and hope at CHOC through the help of rapid whole-genome sequencing.

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Genetics Metabolics Rare Disease Dr. Adam Schwarz Dr. Jason Knight Dr. John Cleary Dr. Juliette Hunt Dr. Neda Zadeh Dr. Nick Anas Dr. Richard Chang

A lifelong battle with a rare disease: Caleb’s story

October 1, 2020

His mother’s keen eye and a pediatrician’s intuition ultimately led to an unexpected diagnosis of MPS Type II.

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Genetics Metabolics Rare Disease Dr. Raymond Wang Dr. Touran Zadeh Patient Stories Popular Stories

Conference to Connect Medically Complex Teens, Parents with Peers

October 17, 2016

An upcoming CHOC conference will help teens with medically complex connective tissue disorders and their parents learn about their diagnoses.

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Genetics Dr. Paul Yost Events

Trisomy Awareness Month: What Parents Should Know

March 24, 2016

Individuals with a trisomy have an extra chromosome in some or all of their cells, which affects development.

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Genetics

Neurofibromatosis Type 1: What Parents Should Know

March 15, 2016

A CHOC geneticist discusses neurofibromatosis type 1 (NF1), including what parents can look for and how it’s treated.

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Cancer / Oncology Genetics Neurology Orthopaedics Dr. Neda Zadeh CHOC Children's Health of Orange County

Preventing & Screening For Birth Defects

January 14, 2016

Dr. Neda Zadeh, a CHOC geneticist, share how parents may prevent birth defects, and prenatal tests available to screen for birth defects.

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Genetics Health
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These articles are not intended to replace the relationship you have with a physician or another healthcare practitioner. For specific medical advice, diagnoses and treatment, please consult your doctor. This website may include links to other websites which provide additional information that is consistent with the intended purpose of this publication. Linking to a non-CHOC site does not constitute an endorsement by CHOC of the sponsors or the information and products presented on the site.