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American Journal of Human Genetics, ISSN 0002-9297, 03/2009, Volume 84, Issue 3, p. 307
The spondylometaphyseal dysplasias (SMDs) are a group of short-stature disorders distinguished by abnormalities in the vertebrae and the metaphyses of the... 
Calcium | Genes | Bones | Mutation | Bone diseases
Journal Article
Journal Article
Journal of Clinical Immunology, ISSN 0271-9142, 4/2016, Volume 36, Issue 3, pp. 220 - 234
Spondyloenchondrodysplasia is a rare immuno-osseous dysplasia caused by biallelic mutations in ACP5. We aimed to provide a survey of the skeletal, neurological... 
type I interferon | Medical Microbiology | Biomedicine | Immunology | tartrate-resistant acid phosphatase (TRAP) | Infectious Diseases | Internal Medicine | ACP5 | interferon signature | SPENCD/SPENCDI | Spondyloenchondrodysplasia | RNASEH2A | CEREBRAL CALCIFICATIONS | PHENOTYPES | IMMUNOLOGY | DEFICIENCY | IMMUNE DYSREGULATION | ENCHONDROMATOSIS | SPONDYLOMETAPHYSEAL DYSPLASIA | AUTOIMMUNITY | EXPRESSION SIGNATURE | IMMUNODEFICIENCY | Bone and Bones - pathology | Osteochondrodysplasias - pathology | Purpura, Thrombocytopenic, Idiopathic - genetics | Intellectual Disability - immunology | Humans | Child, Preschool | Male | Autoantibodies - biosynthesis | Interferon Type I - immunology | Intellectual Disability - genetics | Autoimmune Diseases - genetics | Osteochondrodysplasias - genetics | Purpura, Thrombocytopenic, Idiopathic - immunology | Purpura, Thrombocytopenic, Idiopathic - pathology | Lupus Erythematosus, Systemic - immunology | Adult | Female | Tartrate-Resistant Acid Phosphatase - immunology | Autoimmune Diseases - pathology | Child | Gene Expression | Osteochondrodysplasias - immunology | Autoimmune Diseases - immunology | Intellectual Disability - pathology | Genotype | Phenotype | Pedigree | Lupus Erythematosus, Systemic - genetics | Adolescent | Alleles | Brain - pathology | Interferon Type I - genetics | Bone and Bones - immunology | Mutation | Tartrate-Resistant Acid Phosphatase - deficiency | Tartrate-Resistant Acid Phosphatase - genetics | Brain - immunology | Lupus Erythematosus, Systemic - pathology | Autoimmunity | SPENCDI | Original | SPENCD
Journal Article
American journal of medical genetics. Part A, ISSN 1552-4825, 12/2017, Volume 173, Issue 12, pp. 3205 - 3210
Small supernumerary ring chromosome 6 (sSRC(6)) is a rare chromosomal abnormality characterized by a broad clinical phenotype. The spectrum of this disorder... 
mosaic marker chromosome | osteochondrodysplasias | pathologic fracture | bone cysts
Journal Article
JOURNAL OF CLINICAL IMMUNOLOGY, ISSN 0271-9142, 07/2016, Volume 36, Issue 5, pp. 529 - 530
Journal Article
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