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Medicine, ISSN 0025-7974, 12/2018, Volume 97, Issue 50, p. e13644
Rationale: Spondyloenchondrodysplasia (SPENCD) is an autosomal recessive skeletal dysplasia by biallelic mutations in ACP5 gene encoding tartrate-resistant... 
IMMUNE DYSREGULATION | MEDICINE, GENERAL & INTERNAL | spondyloenchondrodysplasia | CEREBRAL CALCIFICATIONS | DYSPLASIA | ACP5 | spheno-occipital synchondrosis | tooth eruption | MUTATIONS | BONE | skeletal dysplasia | DEFICIENCY | Case studies | Complications and side effects | Development and progression | Care and treatment | Bone tumors | Craniofacial abnormalities
Journal Article
PLoS ONE, ISSN 1932-6203, 12/2017, Volume 12, Issue 12, p. e0188168
Background Ebstein anomaly (EA) is a rare congenital defect characterized by apical displacement of the septal tricuspid leaflets and atrialization of the right ventricle... 
TRICUSPID-VALVE | CARDIAC MYOGENESIS | ACTIVIN-A | IN-VITRO | MULTIDISCIPLINARY SCIENCES | EMBRYONIC STEM-CELLS | SKELETAL ABNORMALITIES | DEFINITIVE ENDODERM | 2ND HEART FIELD | DILATED CARDIOMYOPATHY | AVIAN PREGASTRULA EPIBLAST | Copy number variations | Analysis | Physiological aspects | Influence | Genetic aspects | Research | Ebstein's anomaly
Journal Article
Journal of Pediatric Orthopaedics, ISSN 0271-6798, 01/2014, Volume 34, Issue 1, pp. 109 - 117
Journal Article