Dr. Paldeep Singh Atwal MD
Geneticist | Clinical Biochemical Genetics
4500 San Pablo Rd S Jacksonville FL, 32224About
Dr. Paldeep Atwal practices Genetic Medicine in Jacksonville, FL. As a geneticist, Dr. Atwal performs experiments and analyzes data to interpret the inheritance of different traits in patients. A geneticist evaluates, diagnoses, and manages patients? with hereditary conditions or congenital malformations, genetic risk calculations, and mutation analysis. Dr. Atwal carries out studies, tests, and counsels patients with genetic diseases.
Education and Training
University of Glasgow Faculty of Medicine 2008
Provider Details
Expert Publications
Data provided by the National Library of Medicine- Mosaic paternal genome-wide uniparental isodisomy with down syndrome.
- Molybdenum cofactor deficiency.
- Novel X-linked syndrome of cardiac valvulopathy, keloid scarring, and reduced joint mobility due to filamin A substitution G1576R.
- Holocarboxylase synthetase deficiency pre and post newborn screening.
- A Case of Concurrent Miller-Dieker Syndrome (17p13.3 Deletion) and 22q11.2 Deletion Syndrome.
- A Case of Anterior Segment Dysgenesis with Iridolenticular Adhesions in Trisomy 18.
- Early-onset limb-girdle muscular dystrophy-2L in a female athlete.
- Case report: 5 year follow-up of adult late-onset mitochondrial encephalomyopathy with lactic acid and stroke-like episodes (MELAS).
- A novel ANO3 variant identified in a 53-year-old woman presenting with hyperkinetic dysarthria, blepharospasm, hyperkinesias, and complex motor tics.
- Novel Pathogenic Variant in TGFBR2 Confirmed by Molecular Modeling Is a Rare Cause of Loeys-Dietz Syndrome.
- nonsense variant c.1921C>T in a patient with recurrent breast cancer.
- A case of contralateral breast cancer and skin cancer associated with NBN heterozygous pathogenic variant c.698_701delAACA.
- Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in .
- The role of screening MRI in the era of next generation sequencing and moderate-risk genetic mutations.
- Late onset asymptomatic pancreatic neuroendocrine tumor - A case report on the phenotypic expansion for MEN1.
Treatments
- Breast Cancer
- Birth Defects
Dr. Paldeep Singh Atwal MD's Practice location
PALM BEACH, FL 33480Get Direction
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