Short rib-dysplasia group (with/without polydactyly): Report of a patient suggesting the existence of a continuous spectrum
Author:
Publisher
Wiley
Subject
Genetics(clinical)
Reference35 articles.
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4. (1990): Short rib-polydactyly syndrome, type II. In (ed): “Birth Defects Encyclopedia.” Dover: Blackwell Scientific Publications, pp 1529-1530.
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2. Targeted next-generation sequencing identifies novel compound heterozygous mutations of DYNC2H1 in a fetus with short rib-polydactyly syndrome, type III;Clinica Chimica Acta;2015-07
3. Antenatal Diagnosis of Jeune Syndrome (Asphyxiating Thoracic Dysplasia) with Micromelia and Facial Dysmorphism on Second-Trimester Ultrasound;Polish Journal of Radiology;2015
4. The Many Faces of Oral-Facial-Digital Syndrome;Balkan Journal of Medical Genetics;2012-01-01
5. Atrioventricular canal defect and associated genetic disorders: new insights into polydactyly syndromes;Cardiogenetics;2011-07-26
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