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Human Mutation, ISSN 1059-7794, 12/2013, Volume 34, Issue 12, pp. 1632 - 1641
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 12/2018, Volume 176, Issue 12, pp. 2661 - 2667
Mutations in the T‐Box transcription factor gene TBX22 are found in X‐linked Cleft Palate with or without Ankyloglossia syndrome (CPX syndrome). In addition to... 
choanal atresia | reverse phenotyping | WES | TBX22 | non‐syndromic CLP | Pierre‐Robin sequence | non-syndromic CLP | Pierre-Robin sequence | TBX22 MUTATIONS | ANKYLOGLOSSIA | CAUSE VAN | PALATE | GENETICS | FREQUENT CAUSE | GENETICS & HEREDITY | SYNDROMIC CLEFT-LIP | ASSOCIATION | EXPRESSION | CHARGE syndrome | Heredity | Mutation | Phenotyping | Cleft lip/palate | Choanal atresia
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 09/2017, Volume 54, Issue 9, pp. 613 - 623
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 04/2012, Volume 20, Issue 4, pp. 381 - 388
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 07/2017, Volume 54, Issue 7, pp. 479 - 488
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
Journal Article