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meier-gorlin syndrome (90) 90
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Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 09/2015, Volume 10, Issue 1
Meier-Gorlin syndrome (MGS) is a rare autosomal recessive primordial dwarfism disorder, characterized by microtia, patellar applasia/hypoplasia, and a... 
Pre-replication complex | Ear patella short stature syndrome | Short stature | Meier-Gorlin syndrome | Patellar a-/hypoplasia | Microtia | Origin recognition complex
Journal Article
European journal of human genetics, ISSN 1018-4813, 2012, Volume 20, Issue 6, pp. 598 - 606
Journal Article
PLoS Genetics, ISSN 1553-7390, 11/2012, Volume 8, Issue 11, p. e1002945
A homozygous mutational change in the Ataxia-Telangiectasia and RAD3 related (ATR) gene was previously reported in two related families displaying Seckel... 
H2AX | PRIMORDIAL DWARFISM | PHOSPHORYLATION | DNA-DAMAGE RESPONSE | ORIGIN RECOGNITION COMPLEX | II MOPD-II | GENETICS & HEREDITY | STRESS | MEIER-GORLIN SYNDROME | LOCUS | SSDNA | Osteochondrodysplasias - pathology | Microcephaly - genetics | Growth Disorders - pathology | Humans | Fetal Growth Retardation - genetics | Male | Micrognathism - pathology | DNA-Binding Proteins - deficiency | DNA-Binding Proteins - metabolism | RNA Splicing | Osteochondrodysplasias - genetics | Microcephaly - pathology | Patella - abnormalities | Cell Cycle Proteins - genetics | Female | Dwarfism - pathology | Protein-Serine-Threonine Kinases - metabolism | Congenital Microtia | Ear - abnormalities | Micrognathism - genetics | Cell Cycle Proteins - metabolism | Gene Expression Regulation | Protein-Serine-Threonine Kinases - genetics | Signal Transduction - genetics | Ataxia Telangiectasia Mutated Proteins | Codon, Nonsense | DNA-Binding Proteins - genetics | Fetal Growth Retardation - pathology | Patella - pathology | Dwarfism - genetics | Adaptor Proteins, Signal Transducing - deficiency | Adaptor Proteins, Signal Transducing - genetics | Heterozygote | Ear - pathology | Adaptor Proteins, Signal Transducing - metabolism | Growth Disorders - genetics | Gene mutations | Seckel syndrome | Physiological aspects | Development and progression | Ataxia telangiectasia | Genetic aspects | Research | Science | Medical research | Mutation | Genes
Journal Article
Journal Article
Saudi Dental Journal, ISSN 1013-9052, 07/2018, Volume 30, Issue 3, pp. 260 - 264
Meier–Gorlin syndrome (MGS) is a rare autosomal recessive disorder characterized by the triad of microtia, absent or small patellae and short stature. The... 
Dentofacial characteristics | Meier-Gorlin syndrome | Management | Tooth diseases | Care and treatment | Children | Research | Health aspects | Case Report
Journal Article
American journal of medical genetics. Part A, ISSN 1552-4825, 2012, Volume 158A, Issue 11, pp. 2733 - 2742
Journal Article
Journal Article
Human Mutation, ISSN 1059-7794, 10/2012, Volume 33, Issue 10, pp. 1429 - 1434
Journal Article
Clinical Genetics, ISSN 0009-9163, 07/2018, Volume 94, Issue 1, pp. 43 - 53
The patella is a sesamoid bone, crucial for knee stability. When absent or hypoplastic, recurrent knee subluxations, patellofemoral dysfunction and early... 
limb development | patella hypoplasia | TBX4 | patella agenesis | HISTONE ACETYLTRANSFERASE | RAPADILINO SYNDROME | T-BOX GENES | COFFIN-SIRIS SYNDROME | ORIGIN RECOGNITION COMPLEX | GENETICS & HEREDITY | ROTHMUND-THOMSON-SYNDROME | APLASIA-HYPOPLASIA | OF-THE-LITERATURE | MEIER-GORLIN SYNDROME | GENOTYPE-PHENOTYPE | Knee | Hypoplasia | Diagnosis | Patella
Journal Article