Short Rib-Polydactyly Syndrome Type 1 Overview
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Learn About Short Rib-Polydactyly Syndrome Type 1
Condition 101 content is not available at this time, but we are continually updating the site. Please check back.
However, there may be experts who have treated this or similar conditions in our Find a Doctor section and research may be available in our Latest Advances section.
Who are the top Short Rib-Polydactyly Syndrome Type 1 Local Doctors?
Nephrology
Advanced in Short Rib-Polydactyly Syndrome Type 1
Nephrology
Mille Lacs Health System
200 Elm St N,
Onamia, MN
Languages Spoken:
English
Accepting New Patients
Jeffrey Skogen is a Nephrologist in Onamia, Minnesota. Dr. Skogen and is rated as an Advanced provider by MediFind in the treatment of Short Rib-Polydactyly Syndrome Type 1. His top areas of expertise are Short Rib-Polydactyly Syndrome Type 1, Nephrosclerosis, Renovascular Hypertension, and Chronic Kidney Disease. Dr. Skogen is currently accepting new patients.
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What are the Latest Advances for Short Rib-Polydactyly Syndrome Type 1?
Early prenatal diagnosis of a recurrent case of short-rib thoracic dysplasia 3 due to compound heterozygosity for variations in the DYNC2H1 gene: an "ultrasound first" approach.
Journal: The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians
Published: April 26, 2023
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Characterization of a novel deep-intronic variant in DYNC2H1 identified by whole-exome sequencing in a patient with a lethal form of a short-rib thoracic dysplasia type III.
Journal: Cold Spring Harbor molecular case studies
Published: October 21, 2022
What are the latest Short Rib-Polydactyly Syndrome Type 1 Clinical Trials?