Physician
Pediatrics
Dr. Pankaj Prasun, MD
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Pankaj Prasun is an expert in the field of Pediatrics. He graduated from Patna Medical College. Pankaj Prasun is a published MD. He published 13 publications, including: 'Expanding the Clinical Spectrum of Mitochondrial Citrate Carrier (SLC25A1) Deficiency: Facial Dysmorphism in Siblings with Epileptic Encephalopathy and Combined D,L-2-...'
Publications
- Expanding the Clinical Spectrum of Mitochondrial Citrate Carrier (SLC25A1) Deficiency: Facial Dysmorphism in Siblings with Epileptic Encephalopathy and Combined D,L-2-...
- Rare variant of unknown significance in POLG1 and diagnostic dilemma.
- Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype in a patient with a novel heterozygous POLG mutation.
- Ornithine Transcarbamylase Deficiency Presenting With Acute Reversible Cortical Blindness.
- Compound heterozygous microdeletion of chromosome 15q13.3 region in a child with hypotonia, impaired vision, and global developmental delay.
- Fatal acute encephalopathy in two siblings: A distinct hereditary entity?
- Unusual physical features and heat stroke presentation for hypohydrotic ectodermal dysplasia.
- Association of angiotensin-converting enzyme gene I/D polymorphism with steroid responsiveness in childhood nephrotic syndrome.
- Limb body wall complex.
- One gene, many phenotypes.
- Left-sided gastroschisis and bilateral multicystic dysplastic kidneys: a rare combination of anomalies.
- Intrafamilial variability in Fraser syndrome.
Doctors Specialties
- Medical Genetics
- Pediatrics
Accepted Insurances
Education
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Duke University Hospital -
Patna Medical College
Hospital
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Mount Sinai Hospital
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